SsSNPTarget
From SNPedia
http://variome.kobic.re.kr/ssSNPTarget/download.jsp
#rsID trxID chr snp_chromStart snp_chromEnd snp_strand exonNum ss_pos ss_strength genotype splice_site changes after_strength class location domain symbol disease rs10135021 uc001yrq.1 chr14 105747036 105747036 + 592 3splicesite -28.0 C/G GA GA->(G/C)A 12.12,-2.34 single 3UTR - - - rs10136467 uc001yrq.1 chr14 105631025 105631025 + 1028 3splicesite -1.0 C/T AT AT->(G/A)T 6.41,-2.34 single 3UTR - - - rs10139594 uc001yrq.1 chr14 105919112 105919112 + 185 3splicesite -15.0 A/G AT AT->A(T/C) 6.41,-2.34 single 3UTR - - - rs10152051 uc001yrq.1 chr14 105644604 105644604 + 987 3splicesite -21.0 A/G CT CT->C(T/C) 6.41,-0.07 single 3UTR - - - rs10202288 ENST00000343510 chr2 37405169 37405169 + 1 5splicesite -9.0 C/T AC AC->(G/A)C single 3UTR - - - rs10202288 ENST00000233057 chr2 37405169 37405169 + 1 5splicesite -9.0 C/T AC AC->(G/A)C single 3UTR - EIF2AK2 hepatitis B|12447867|GAD || hepatitis C|12944978|GAD rs10305900 ENST00000394047 chr4 148661019 148661019 + 4 3splicesite 0.0 G/T TG TG->(G/T)G 9.37,1.42 single CDS - - - rs1044178 ENST00000394447 chr15 87545665 87545665 - 3 3splicesite -8.0 G/T TG TG->T(G/T) -0.65,8.10 single 3UTR - - - rs1044178 ENST00000394447 chr15 87545665 87545665 - 2 5splicesite -12.0 G/T TG TG->T(G/T) single 3UTR - - - rs10441874 ENST00000366256 chr9 66213303 66213303 + 1 5splicesite -24.0 A/T TT TT->(A/T)T single 3UTR - - - rs10441874 ENST00000366256 chr9 66213303 66213303 + 2 3splicesite -29.0 A/T AT AT->A(A/T) 11.66 single 3UTR - - - rs1044447 ENST00000357204 chr22 20991652 20991652 + 1 5splicesite -15.0 A/G GA GA->G(A/G) single CDS - - - rs1047588 ENST00000235290 chr1 63787527 63787527 + 1 5splicesite -29.0 A/T TC TC->(A/T)C single CDS - - - rs1047588 ENST00000235290 chr1 63787527 63787527 + 2 3splicesite -29.0 A/T CT CT->C(A/T) 10.71,8.92 single CDS - - - rs1052145 ENST00000304214 chrX 102771700 102771700 + 4 5splicesite -24.0 G/T GC GC->(G/T)C single CDS PF06137.3 - - rs1052896 ENST00000395582 chr5 112958851 112958851 + 15 3splicesite -11.0 A/G AA AA->A(A/G) 2.19,10.79 single 3UTR - - - rs1053366 ENST00000243186 chr1 25584894 25584894 - 8 3splicesite -21.0 A/C CA CA->C(A/C) -0.13,-4.62 single CDS PF00909.12 - - rs1059830 uc001agx.1 chr1 1640657 1640657 + 4 5splicesite -17.0 A/G TG TG->(T/C)G single CDS PF07714.8,PF00069.16 CDC2L1 - rs1059830 uc001agy.1 chr1 1640657 1640657 + 4 5splicesite -17.0 A/G TG TG->(T/C)G single CDS PF07714.8,PF00069.16 CDC2L1 - rs1059830 uc001ahr.1 chr1 1640657 1640657 + 4 5splicesite -17.0 A/G TG TG->(T/C)G single CDS PF07714.8,PF00069.16 - - rs1059830 uc001agw.1 chr1 1640657 1640657 + 5 5splicesite -17.0 A/G TG TG->(T/C)G single CDS PF07714.8,PF00069.16 CDC2L1 - rs1062968 ENST00000376010 chr6 31699545 31699545 + 4 3splicesite -13.0 C/G CA CA->(C/G)A -1.48,0.79 single CDS - - - rs1062968 ENST00000396046 chr6 31699545 31699545 + 4 3splicesite -13.0 C/G CA CA->(C/G)A -0.08,8.67 single CDS - - - rs1064032 ENST00000354032 chr7 27175727 27175727 - 1 5splicesite -15.0 C/G CC CC->C(C/G) single CDS PF00046.20 HOXA9 - rs10800841 uc001gyd.1 chr1 200832059 200832059 + 10 3splicesite 1.0 C/T AT AT->(G/A)T 11.69,3.63 single 5UTR - SYT2 - rs10839551 ENST00000396824 chr11 6297973 6297973 + 2 3splicesite -20.0 C/T GC GC->(G/A)C 3.52,12.27 single CDS - - - rs10839551 ENST00000396824 chr11 6297973 6297973 + 1 5splicesite -31.0 C/T GC GC->(G/A)C single CDS - - - rs10840332 ENST00000399502 chr11 9937077 9937077 + 5 5splicesite -24.0 C/T CA CA->C(G/A) single 3UTR - - - rs10846559 uc001ufs.1 chr12 122840427 122840427 + 6 3splicesite -23.0 A/G AT AT->(A/G)T -5.89,2.17 single CDS PF08385.3 DNAH10 - rs10899795 ENST00000374451 chr10 43189103 43189103 + 3 3splicesite -7.0 A/C TC TC->T(A/C) 1.20,9.95 single 5UTR - FXYD4 - rs10901231 uc004ccl.1 chr9 134949147 134949147 + 2 5splicesite -19.0 A/C CC CC->(A/C)C single 3UTR - - - rs10986468 ENST00000353214 chr9 126664500 126664500 + 1 5splicesite -1.0 A/T GA GA->G(A/T) single 5UTR - ARPC5L - rs11042902 ENST00000308763 chr11 10612199 10612199 + 2 3splicesite -2.0 C/T GG GG->(G/A)G 9.86,7.75 single CDS - - - rs11065655 ENST00000377854 chr12 108061848 108061848 + 3 3splicesite -34.0 C/T CC CC->C(C/T) 2.57,1.63 single CDS - - - rs11065655 ENST00000338432 chr12 108061848 108061848 + 3 3splicesite -34.0 C/T CC CC->C(C/T) 5.14,11.65 single CDS - - - rs1139244 ENST00000259090 chr8 11603426 11603426 + 3 5splicesite -22.0 C/G CG CG->C(C/G) single CDS PF05349.3 GATA4 Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD rs1141015 uc001edl.1 chr1 114041486 114041486 - 18 5splicesite -23.0 G/T TA TA->(G/T)A single 5UTR - PHTF1 - rs1141016 uc001edl.1 chr1 114041485 114041485 - 18 5splicesite -23.0 A/C TA TA->T(A/C) single 5UTR - PHTF1 - rs1141175 ENST00000396243 chrX 54608140 54608140 + 19 3splicesite -13.0 A/G AC AC->(A/G)C 0.71,9.46 single 3UTR - - - rs1153847 ENST00000396655 chr15 43484182 43484182 - 1 5splicesite -30.0 A/G TA TA->(T/C)A single 3UTR - SPATA5L1 - rs11539927 uc003bqr.1 chr3 8589542 8589542 + 1 5splicesite -17.0 G/T TG TG->T(G/T) single CDS - - - rs11539927 uc003bqr.1 chr3 8589542 8589542 + 2 3splicesite -7.0 G/T GA GA->(G/T)A -2.41,-2.39 single CDS - - - rs11549095 ENST00000374475 chr1 24067026 24067026 - 2 3splicesite -14.0 A/G GC GC->(A/G)C 1.20,9.95 single CDS PF01120.8 - - rs11551842 ENST00000351322 chr4 155753170 155753170 - 1 5splicesite -7.0 A/C CT CT->(A/C)T single CDS - - - rs11552060 ENST00000366401 chr17 2887421 2887421 - 2 3splicesite -2.0 C/G CG CG->(G/C)G 2.75,8.70 single 3UTR - - - rs11552325 ENST00000326873 chr19 1169499 1169499 + 2 5splicesite -7.0 C/T AT AT->A(C/T) single CDS PF07714.8,PF00069.16 STK11 pancreatic cancer|15331174|GAD || Peutz-Jeghers syndrome|12865922|GAD || Peutz-Jegher's syndrome|10623683|GAD || Testicular tumor, sporadic|-|OMIM || Pancreatic cancer, sporadic|-|OMIM || Melanoma, malignant sporadic|-|OMIM || Peutz-Jeghers syndrome|15121768|GAD || Peutz-Jeghers syndrome ?|blocked|HGMD || Peutz-Jeghers syndrome|blocked|HGMD || Peutz-Jeghers syndrome|17344591|GAD || Peutz-Jeghers syndrome|15188174|GAD || Peutz-Jeghers syndrome|-|OMIM || lung cancer|17384680|GAD rs11555932 ENST00000347546 chrX 54852978 54852978 + 3 5splicesite -17.0 A/G CA CA->C(A/G) single CDS - - - rs11559076 ENST00000312613 chr16 88146906 88146906 + 20 5splicesite -12.0 A/G GA GA->G(A/G) single CDS - - - rs11571790 ENST00000400497 chr13 31858044 31858044 + 4 5splicesite -6.0 C/T AT AT->A(C/T) single 3UTR - - - rs11589984 uc001fbg.1 chr1 151309956 151309956 + 2 3splicesite -14.0 A/G TC TC->T(T/C) -2.07,6.68 single 3UTR - SPRR2B - rs11626680 uc001yrq.1 chr14 105742631 105742631 + 614 5splicesite -34.0 A/G TC TC->T(T/C) single 3UTR - - - rs11627950 uc001yrq.1 chr14 105498904 105498904 + 1616 3splicesite -23.0 G/T AC AC->(C/A)C 4.79 single 3UTR - - - rs11637032 ENST00000400226 chr15 18725170 18725170 + 6 5splicesite -27.0 C/T AG AG->A(G/A) single CDS - - - rs11650229 ENST00000343048 chr17 75423653 75423653 + 5 5splicesite -32.0 A/T CA CA->C(T/A) single CDS - - - rs11657804 uc002jia.1 chr17 64722587 64722587 + 10 3splicesite -17.0 C/T AT AT->(G/A)T 7.79,-0.96 single CDS PF00005.18 ABCA10 - rs11669101 uc002qcg.1 chr19 59002998 59002998 + 1 5splicesite -38.0 C/T AC AC->(G/A)C single 3UTR - NALP12 Familial cold autoinflammatory syndrome 2|-|OMIM rs11676792 ENST00000389758 chr2 234397056 234397056 + 35 5splicesite -4.0 A/G AT AT->(A/G)T single CDS - - - rs11713201 ENST00000394214 chr3 97821247 97821247 + 3 3splicesite -27.0 A/G GC GC->(A/G)C -0.82,7.55 single 3UTR - - - rs11715636 ENST00000396019 chr3 44890254 44890254 + 3 3splicesite -24.0 C/G GT GT->(C/G)T 0.73,9.48 single 3UTR - - - rs11749652 ENST00000303525 chr5 34991916 34991916 + 6 3splicesite -12.0 A/G AA AA->A(A/G) -0.24 single CDS - DNAJC21 - rs11846362 uc001yrq.1 chr14 105558818 105558818 + 1314 3splicesite -22.0 A/C GC GC->(T/G)C -3.81,0.32 single 3UTR - - - rs11848584 uc001yrq.1 chr14 105520073 105520073 + 1472 5splicesite -12.0 G/T CA CA->C(C/A) single 3UTR - - - rs11887528 uc002stk.1 chr2 89157579 89157579 + 47 3splicesite -17.0 A/C TG TG->(T/G)G 7.07,-0.99 single 3UTR - - - rs12024305 uc001elm.1 chr1 143729263 143729263 + 3 5splicesite 3.0 A/G GC GC->G(T/C) single 3UTR - PDE4DIP - rs12100850 uc001yrq.1 chr14 105824144 105824144 + 318 3splicesite -27.0 G/T CC CC->(C/A)C 9.07,0.32 single 3UTR - - - rs12100994 uc001yrq.1 chr14 105630045 105630045 + 1032 5splicesite -13.0 A/G TA TA->(T/C)A single 3UTR - - - rs12141152 ENST00000367636 chr1 176780788 176780788 + 1 5splicesite 1.0 C/T GC GC->G(C/T) single CDS - - - rs12141152 ENST00000367638 chr1 176780788 176780788 + 2 5splicesite 1.0 C/T GC GC->G(C/T) single CDS - - - rs12156891 ENST00000304314 chrX 47852134 47852134 + 1 5splicesite -33.0 A/G AC AC->(A/G)C single 5UTR - SSX6 - rs12156891 ENST00000319275 chrX 47852134 47852134 + 1 5splicesite -33.0 A/G AC AC->(A/G)C single 5UTR - SSX6 - rs12156891 uc004dix.1 chrX 47852134 47852134 + 1 5splicesite -33.0 A/G AC AC->(A/G)C single 5UTR - SSX6 - rs12162993 ENST00000356969 chr22 31540167 31540167 + 3 3splicesite -7.0 A/G TT TT->T(T/C) -4.04,-0.56 single 3UTR - - - rs12218638 ENST00000317126 chr10 73645599 73645599 + 1 5splicesite -16.0 C/T GA GA->G(G/A) single 3UTR - ASCC1 - rs12294349 ENST00000382784 chr11 118378 118378 + 2 3splicesite -12.0 C/T GG GG->(G/A)G 10.10,1.35 single CDS - - - rs12325516 ENST00000357880 chr16 57341304 57341304 + 2 5splicesite -18.0 C/T TG TG->(C/T)G single 3UTR - - - rs12325516 ENST00000357880 chr16 57341304 57341304 + 3 3splicesite -27.0 C/T TG TG->(C/T)G 0.21,0.87 single 3UTR - - - rs12438174 ENST00000261722 chr15 81145549 81145549 + 11 3splicesite -15.0 A/T TT TT->(T/A)T 9.62,-3.47 single CDS - AP3B2 - rs12438174 ENST00000261722 chr15 81145549 81145549 + 10 5splicesite -1.0 A/T TT TT->(T/A)T single CDS - AP3B2 - rs12459176 ENST00000396436 chr19 57651803 57651803 + 2 5splicesite -1.0 C/T GC GC->G(C/T) single 5UTR - - - rs12459176 uc002pzo.1 chr19 57651803 57651803 + 2 5splicesite -1.0 C/T GC GC->G(C/T) single 3UTR - - - rs12459176 uc002pzm.1 chr19 57651803 57651803 + 2 5splicesite -1.0 C/T GC GC->G(C/T) single 3UTR - - - rs12534308 ENST00000395417 chr7 56604078 56604078 + 2 5splicesite -7.0 A/G TG TG->(T/C)G single 3UTR - - - rs12581 ENST00000278373 chr11 32580520 32580520 + 12 3splicesite -5.0 A/G TG TG->T(A/G) -7.80,11.05 single CDS - EIF3M - rs12588295 uc001yrq.1 chr14 105553022 105553022 + 1348 3splicesite -5.0 C/T CG CG->C(G/A) 9.07,1.36 single 3UTR - - - rs12622896 ENST00000272643 chr2 137746704 137746704 + 10 5splicesite 4.0 C/T GC GC->G(C/T) single CDS - THSD7B - rs12622896 uc002tva.1 chr2 137746704 137746704 + 10 5splicesite 4.0 C/T GC GC->G(C/T) single CDS - THSD7B - rs12622896 uc002tvb.1 chr2 137746704 137746704 + 9 5splicesite 4.0 C/T GC GC->G(C/T) single CDS - THSD7B - rs12673396 uc003upm.1 chr7 98283065 98283065 + 9 3splicesite -8.0 C/G AC AC->A(G/C) single 5UTR - TMEM130 - rs12737963 ENST00000328530 chr1 153427732 153427732 + 3 3splicesite -7.0 G/T CG CG->(C/A)G 9.50,9.50 single CDS PF01390.11 - - rs12746956 ENST00000401027 chr1 93084730 93084730 + 5 3splicesite -1.0 A/G AT AT->A(T/C) 5.28,-3.47 single CDS - FAM69A - rs12756305 ENST00000332534 chr1 94540636 94540636 + 1 5splicesite -24.0 C/T TC TC->T(C/T) single 3UTR - - - rs12756305 ENST00000332534 chr1 94540636 94540636 + 2 3splicesite -15.0 C/T TC TC->T(C/T) 10.75,7.57 single 3UTR - - - rs1281013 ENST00000377008 chr1 10932266 10932266 - 6 5splicesite 0.0 C/T GC GC->G(C/T) single CDS PF04554.4 C1orf127 - rs1281013 uc001arr.1 chr1 10932266 10932266 - 6 5splicesite 0.0 C/T GC GC->G(C/T) single CDS PF04554.4 C1orf127 - rs12826001 ENST00000366399 chr12 2828304 2828304 + 1 5splicesite -13.0 A/G GC GC->(A/G)C single 3UTR - - - rs12826001 ENST00000366399 chr12 2828304 2828304 + 2 3splicesite -18.0 A/G CG CG->C(A/G) 10.70,10.70 single 3UTR - - - rs1287637 ENST00000378156 chr1 5857749 5857749 - 21 3splicesite 1.0 A/T TG TG->(A/T)G 8.92,7.18 single CDS - NPHP4 Nephronophthisis 4|-|OMIM || kidney disease|15776426|GAD || Senior-Loken syndrome 4|-|OMIM || Nephronophthisis 4|blocked|HGMD rs1287637 uc001alq.1 chr1 5857749 5857749 - 21 3splicesite 1.0 A/T TG TG->(A/T)G 0.18,8.93 single CDS - NPHP4 Nephronophthisis 4|-|OMIM || kidney disease|15776426|GAD || Senior-Loken syndrome 4|-|OMIM || Nephronophthisis 4|blocked|HGMD rs12883084 uc001yrq.1 chr14 105694420 105694420 + 808 5splicesite -10.0 C/G CT CT->(G/C)T single 3UTR - - - rs12885001 uc001yrq.1 chr14 105791992 105791992 + 426 3splicesite -11.0 C/T GA GA->(G/A)A 9.42,6.05 single 3UTR - - - rs12890996 uc001yrq.1 chr14 105601049 105601049 + 1145 5splicesite -7.0 G/T AT AT->(C/A)T single 3UTR - - - rs12905274 ENST00000382938 chr15 27234496 27234496 + 7 3splicesite -20.0 A/G CG CG->C(A/G) 9.81,1.06 single 3UTR - - - rs12950923 uc002fuz.1 chr17 2815685 2815685 + 8 5splicesite -34.0 C/T TA TA->(C/T)A single CDS - GARNL4 - rs12984546 uc002met.1 chr19 6377277 6377277 + 8 5splicesite -25.0 C/T AG AG->(G/A)G single 5UTR - SLC25A41 - rs13180009 ENST00000393929 chr5 162797347 162797347 + 2 3splicesite -25.0 C/G GG GG->(C/G)G -0.09,8.66 single 5UTR - - - rs13193229 uc003muu.1 chr6 2968383 2968383 + 1 5splicesite 0.0 A/T GA GA->G(T/A) single CDS - - - rs13220071 ENST00000281662 chr6 56606872 56606872 + 27 5splicesite -25.0 C/T TA TA->T(G/A) single CDS - - - rs13232643 ENST00000397185 chr7 156600915 156600915 + 2 5splicesite -19.0 A/T AT AT->(T/A)T single CDS - - - rs13232656 ENST00000316919 chr7 4841340 4841340 + 4 5splicesite -30.0 A/G CT CT->(T/C)T single CDS - - - rs13240848 ENST00000392797 chr7 151285905 151285905 + 2 5splicesite -3.0 A/G AT AT->(A/G)T single 5UTR - GALNTL5 - rs13240848 ENST00000360643 chr7 151285905 151285905 + 2 5splicesite -3.0 A/G AT AT->(A/G)T single 5UTR - GALNTL5 - rs13290189 uc003zws.1 chr9 35173423 35173423 + 1 5splicesite -11.0 G/T TG TG->(G/T)G single CDS - - - rs13290752 ENST00000311609 chr9 111109298 111109298 + 1 5splicesite 1.0 A/T GA GA->G(T/A) single CDS - EPB41L4B - rs13379202 uc001yrq.1 chr14 105400732 105400732 + 2752 5splicesite -26.0 C/T TA TA->T(G/A) single 3UTR - - - rs140524 ENST00000395701 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS - NCAPH2 - rs140524 ENST00000361482 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS - - - rs140524 ENST00000380768 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS - NCAPH2 - rs140524 ENST00000299821 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS - - - rs140524 uc003blr.1 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS PF06278.2 NCAPH2 - rs140524 uc003blx.1 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS PF06278.2 NCAPH2 - rs140524 uc003blv.1 chr22 49307548 49307548 - 14 5splicesite 3.0 A/G GC GC->G(T/C) single CDS PF06278.2 NCAPH2 - rs1446886 ENST00000395396 chr7 63667551 63667551 + 2 3splicesite -15.0 C/T GC GC->(G/A)C 1.71,10.46 single 3UTR - - - rs1446886 ENST00000395396 chr7 63667551 63667551 + 1 5splicesite -31.0 C/T GC GC->(G/A)C single 3UTR - - - rs1465582 uc002nfx.1 chr19 17258501 17258501 + 10 3splicesite -7.0 G/T TT TT->(G/T)T 8.15,-0.60 single 3UTR - ANKRD41 - rs1484862 uc002stk.1 chr2 88943468 88943468 - 157 3splicesite -27.0 C/T GC GC->G(C/T) 7.07,-0.99 single 3UTR - - - rs1622213 ENST00000360489 chr1 1411020 1411020 + 7 3splicesite 1.0 A/G GG GG->(A/G)G 0.44,7.18 single CDS - ATAD3B - rs16944028 ENST00000393388 chr16 74826814 74826814 + 1 5splicesite -15.0 C/G AG AG->A(G/C) single 3UTR - - - rs16986647 uc002zte.1 chr22 19572645 19572645 + 6 3splicesite -20.0 A/T CT CT->C(A/T) 2.26,10.22 single 3UTR - SNAP29 Schizophrenia, association with|blocked|HGMD || CEDNIK syndrome|blocked|HGMD || schizophrenia|11317222|GAD || Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|-|OMIM rs17027509 ENST00000309632 chr4 152423012 152423012 + 4 5splicesite -2.0 G/T TT TT->T(G/T) single CDS - - - rs17076703 uc001umc.1 chr13 18646181 18646181 - 5 5splicesite -13.0 A/T GA GA->G(A/T) single CDS - TUBA2 - rs17155529 ENST00000378461 chr10 14670748 14670748 + 1 5splicesite -1.0 C/T AT AT->(G/A)T single 3UTR - - - rs17207481 ENST00000299997 chr19 61698227 61698227 + 3 3splicesite -1.0 A/G AA AA->A(A/G) 2.26,7.43 single CDS - - - rs17595598 uc001izv.1 chr10 38778940 38778940 + 1 5splicesite -23.0 C/G CT CT->(C/G)T single 5UTR - - - rs17595612 uc001izv.1 chr10 38779049 38779049 + 2 3splicesite -10.0 C/T TC TC->(C/T)C 5.16,-3.59 single 5UTR - - - rs17635795 ENST00000327578 chr8 17935539 17935539 + 38 3splicesite -4.0 C/T AC AC->A(C/T) 3.35,-0.29 single CDS - PCM1 schizophrenia|16894060|GAD || Thyroid carcinoma, papillary|-|OMIM rs17683718 ENST00000398649 chr6 55912738 55912738 + 4 5splicesite -12.0 C/G CG CG->C(G/C) single 3UTR - - - rs1778540 uc001icn.1 chr1 245486132 245486132 + 1 5splicesite -20.0 C/T TA TA->(C/T)A single CDS - VN1R5 - rs17850417 uc002hmw.1 chr17 31937794 31937794 + 15 5splicesite -16.0 C/G GC GC->(G/C)C single CDS PF00063.12 - - rs17851231 uc001yrq.1 chr14 105280457 105280457 + 2791 3splicesite -14.0 A/G TT TT->T(T/C) -2.70,-0.97 single 3UTR - - - rs17851231 uc001yrq.1 chr14 105280457 105280457 + 2790 5splicesite -22.0 A/G TG TG->(T/C)G single 3UTR - - - rs17853732 ENST00000377277 chr5 175650327 175650327 + 1 5splicesite -27.0 A/C GC GC->G(A/C) single CDS - - - rs17853922 ENST00000337164 chr22 19993492 19993492 + 1 5splicesite -6.0 G/T GG GG->G(C/A) single CDS - - - rs17855995 ENST00000224807 chr10 102785416 102785416 + 4 5splicesite 3.0 A/C GC GC->G(A/C) single CDS PF03820.8 - - rs17855995 ENST00000393459 chr10 102785416 102785416 + 4 5splicesite 3.0 A/C GC GC->G(A/C) single CDS PF03820.8 SFXN3 - rs17855995 uc001ksp.1 chr10 102785416 102785416 + 4 5splicesite 3.0 A/C GC GC->G(A/C) single CDS PF03820.8 SFXN3 - rs17856014 ENST00000003607 chr17 23708521 23708521 + 2 3splicesite -24.0 G/T CA CA->C(C/A) -9.64,-1.57 single CDS PF04379.5 POLDIP2 - rs17856014 ENST00000003607 chr17 23708521 23708521 + 1 5splicesite -8.0 G/T CA CA->C(C/A) single CDS PF04379.5 POLDIP2 - rs17856014 uc002haz.1 chr17 23708521 23708521 + 1 5splicesite -8.0 G/T CA CA->C(C/A) single CDS PF04379.5 POLDIP2 - rs17856436 ENST00000315965 chr7 106088272 106088272 + 1 5splicesite -24.0 A/G TC TC->(T/C)C single CDS - - - rs17856959 uc001kge.1 chr10 91057112 91057112 + 3 3splicesite -21.0 A/G GA GA->G(A/G) 10.24,1.49 single CDS - IFIT2 - rs1801451 ENST00000399967 chr8 23488259 23488259 + 1 5splicesite -6.0 C/T TT TT->(C/T)T single CDS - - - rs1811100 uc001yrq.1 chr14 105462794 105462794 - 1845 5splicesite -11.0 C/T CA CA->(C/T)A single 3UTR - - - rs1815739 uc001oio.1 chr11 66084671 66084671 + 15 5splicesite -25.0 C/T TG TG->(C/T)G single CDS PF00435.12 ACTN3 dystrophinopathy|10797427|GAD || endurance performance|16612741|GAD || endurance, elite|12879365|GAD || endurance performance|17033684|GAD || muscle testing|15718405|GAD || [Sprinting performance]|-|OMIM || aerobic exercise capacity|17560787|GAD || human elite athletic performance|12879365|GAD || muscle testing|15817725|GAD || elite performance|17550918|GAD || muscle strength|17339648|GAD || Alpha actin 3 deficiency, association with|blocked|HGMD || [Alpha-actinin-3 deficiency]|-|OMIM || athletic performance|17468578|GAD rs182664 ENST00000350490 chr11 63433472 63433472 + 20 3splicesite -7.0 A/C AC AC->(A/C)C 9.81,1.22 single 3UTR - MARK2 - rs182664 ENST00000377809 chr11 63433472 63433472 + 19 3splicesite -7.0 A/C AC AC->(A/C)C 1.80,4.19 single 3UTR - - - rs182664 ENST00000377810 chr11 63433472 63433472 + 18 3splicesite -7.0 A/C AC AC->(A/C)C 12.94 single 3UTR - - - rs182664 ENST00000315032 chr11 63433472 63433472 + 19 3splicesite -7.0 A/C AC AC->(A/C)C 11.41,10.17 single 3UTR - MARK2 - rs1852250 uc002stm.1 chr2 89759154 89759154 - 9 3splicesite -35.0 C/T TA TA->T(G/A) -4.97,7.06 single 3UTR - - - rs1870354 ENST00000397372 chr19 16124946 16124946 + 2 3splicesite -16.0 C/T AC AC->A(C/T) 2.83,11.58 single CDS - - - rs1939749 ENST00000326192 chr11 62667425 62667425 - 1 5splicesite 2.0 A/G AT AT->(A/G)T single CDS - - - rs1939749 uc001nwq.1 chr11 62667425 62667425 - 1 5splicesite 2.0 A/G AT AT->(A/G)T single CDS - - - rs1973289 ENST00000398872 chr12 18737021 18737021 + 1 5splicesite -9.0 C/T CT CT->(C/T)T single 3UTR - - - rs1982537 ENST00000392230 chr19 39955219 39955219 + 2 3splicesite 1.0 C/G AC AC->A(G/C) 8.60,-0.00 single 3UTR - - - rs1982537 uc002nvv.1 chr19 39955219 39955219 + 2 3splicesite 1.0 C/G AC AC->A(G/C) 8.22,-0.38 single 3UTR - - - rs1993829 uc002gzg.1 chr17 22777714 22777714 - 11 5splicesite 1.0 A/G GC GC->G(T/C) single 3UTR - - - rs2004640 ENST00000357234 chr7 128365537 128365537 + 1 5splicesite -2.0 G/T GG GG->G(G/T) single 5UTR - - - rs2004640 ENST00000249375 chr7 128365537 128365537 + 1 5splicesite -2.0 G/T GG GG->G(G/T) single 5UTR - - - rs2004640 uc003voi.1 chr7 128365537 128365537 + 1 5splicesite -2.0 G/T GG GG->G(G/T) single 5UTR - IRF5 rheumatoid arthritis|17599733|GAD || lupus erythematosus|16642019|GAD || Systemic lupus erythematosus, assoc. with ?|blocked|HGMD || lupus erythematosus|17166181|GAD || rheumatoid arthritis|17133578|GAD || lupus erythematosus|17568788|GAD || lupus erythematosus|17389033|GAD || diabetes, type 1|17557928|GAD || lupus erythematosus|15657875|GAD || lupus erythematosus|17476532|GAD || {Inflammatory bowel disease 14, susceptibility to}|-|OMIM || lupus erythematosus|17393452|GAD rs2012826 uc001yrq.1 chr14 105853036 105853036 + 256 3splicesite -13.0 A/G CG CG->(T/C)G 7.78,-0.97 single 3UTR - - - rs2043336 ENST00000395204 chr19 2866738 2866738 - 3 5splicesite -4.0 A/T CT CT->C(T/A) single CDS - ZNF57 - rs2073428 uc002zde.1 chr21 43608028 43608028 + 1 5splicesite -19.0 G/T TA TA->(G/T)A single CDS - - - rs2074071 ENST00000221735 chr19 62695392 62695392 + 4 5splicesite -2.0 A/G AT AT->(A/G)T single CDS - - - rs2074071 ENST00000354197 chr19 62695392 62695392 + 3 5splicesite -2.0 A/G AT AT->(A/G)T single CDS - - - rs2074071 uc002qov.1 chr19 62695392 62695392 + 4 5splicesite -2.0 A/G AT AT->(A/G)T single CDS - ZNF419 - rs213659 ENST00000314015 chr16 1055496 1055496 + 3 3splicesite -5.0 C/T AA AA->(G/A)A -2.18 single 3UTR - - - rs213659 ENST00000314015 chr16 1055496 1055496 + 2 5splicesite -33.0 C/T AA AA->(G/A)A single 3UTR - - - rs2213898 uc001yrq.1 chr14 105790182 105790182 - 430 5splicesite -12.0 A/G AG AG->A(A/G) single 3UTR - - - rs2229638 uc003oex.1 chr6 33756206 33756206 + 32 5splicesite -20.0 C/T CC CC->C(C/T) single CDS - ITPR3 {Diabetes, type 1, susceptibility to}|-|OMIM || diabetes, type 1|16960798|GAD rs2248484 ENST00000400014 chr21 29197761 29197761 + 2 3splicesite -16.0 A/G CG CG->(T/C)G 0.71,8.77 single 3UTR - - - rs2248484 ENST00000400014 chr21 29197761 29197761 + 1 5splicesite -31.0 A/G CG CG->(T/C)G single 3UTR - - - rs2261808 ENST00000400583 chr21 14121117 14121117 - 2 5splicesite -18.0 C/G CC CC->C(G/C) single 3UTR - - - rs2275190 uc001kbi.1 chr10 81805650 81805650 + 4 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - - - rs2275190 uc001kbk.1 chr10 81805650 81805650 + 4 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - - - rs2276122 ENST00000339018 chr11 117470740 117470740 + 2 3splicesite 1.0 A/G AA AA->A(A/G) 8.35,0.74 single CDS - TMPRSS4 - rs2276122 ENST00000392895 chr11 117470740 117470740 + 2 3splicesite 1.0 A/G AA AA->A(A/G) 13.37 single CDS - - - rs2278130 ENST00000326099 chr7 134542501 134542501 + 6 3splicesite -3.0 A/G CG CG->(T/C)G 3.19,11.84 single CDS - WDR91 - rs2289552 uc001ayx.1 chr1 16763952 16763952 - 19 3splicesite -30.0 C/T CG CG->(C/T)G 0.26,9.01 single CDS - NBPF1 - rs2289552 uc001ayx.1 chr1 16763952 16763952 - 18 5splicesite -23.0 C/T AC AC->A(C/T) single CDS - NBPF1 - rs2294120 uc003zdw.1 chr8 145974371 145974371 - 2 5splicesite -14.0 C/T TA TA->(C/T)A single CDS PF00096.17 ZNF34 - rs2304683 uc001ovo.1 chr11 74240725 74240725 + 8 5splicesite -1.0 A/G GC GC->G(T/C) single CDS - - - rs2305077 ENST00000391976 chr2 241860850 241860850 - 1 5splicesite -9.0 A/G GA GA->(A/G)A single 3UTR - - - rs231243 ENST00000301159 chr19 40935653 40935653 + 5 3splicesite 2.0 A/G GG GG->(A/G)G 10.61,13.88 single CDS - LIN37 - rs231518 ENST00000225995 chr17 39316977 39316977 - 4 5splicesite -5.0 A/G AT AT->(A/G)T single CDS PF00625.12 - - rs232221 uc002stk.1 chr2 88943047 88943047 - 159 5splicesite -27.0 G/T AG AG->A(G/T) single 3UTR - - - rs232222 uc002stk.1 chr2 88942662 88942662 - 167 3splicesite -49.0 C/T GT GT->G(C/T) 7.07,-0.99 single 3UTR - - - rs2338346 uc001yrq.1 chr14 105652405 105652405 - 958 5splicesite -13.0 C/T CT CT->(C/T)T single 3UTR - - - rs2338349 uc001yrq.1 chr14 105651438 105651438 - 961 5splicesite -5.0 C/T AT AT->A(C/T) single 3UTR - - - rs2368793 ENST00000355746 chr12 19079 19079 + 2 3splicesite -1.0 C/T GG GG->(G/A)G 1.39,1.90 single CDS - - - rs2381409 uc003zyk.1 chr9 35819390 35819390 + 1 5splicesite -4.0 C/T GC GC->G(C/T) single 5UTR - C9orf127 - rs2404808 ENST00000399855 chr5 2841534 2841534 - 1 5splicesite -10.0 A/G GG GG->G(A/G) single 3UTR - - - rs2405876 uc003kgx.1 chr5 79986489 79986489 + 1 5splicesite -11.0 C/G GC GC->(G/C)C single CDS PF00186.10 DHFR Smith-Lemli-Opitz syndrome|11448909|GAD || Spina bifida, risk, association with|blocked|HGMD || breast cancer|17413111|GAD || neural tube defects|17486595|GAD || Anemia, megaloblastic, due to DHFR deficiency (?)|-|OMIM || colorectal cancer|17449906|GAD || folate homocysteine|16969375|GAD || birth weight; preterm delivery|15755837|GAD rs241448 uc003ocd.1 chr6 32904663 32904663 - 12 5splicesite -36.0 C/T TA TA->(C/T)A single CDS - TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency|-|OMIM || Graves' disease|16721835|GAD || diabetes, type 1|7911550|GAD || cystic fibrosis|12026214|GAD || ankylosing spondylitis|11096258|GAD || bronchiectasis|17245734|GAD || tuberculosis|16634865|GAD || liver disease|11494532|GAD || glaucoma, primary open-angle|15887980|GAD || diabetes, type 1|9226129|GAD || lupus erythematosus|12634240|GAD || diabetes, type 1|12786999|GAD || multiple sclerosis; IgA nephropathy|11775239|GAD || dermatitis, atopic|11737038|GAD || lupus erythematosus|16216677|GAD || HIV|12717621|GAD || juvenile arthritis|15343265|GAD || rheumatoid arthritis|8162639|GAD || hepatitis C, chronic|15548263|GAD || diabetes, type 1|8157258|GAD || multiple sclerosis|7929801|GAD || diabetes, type 1|11916171|GAD || esophageal cancer|15774487|GAD || interferon response|12225333|GAD || psoriasis|12648225|GAD || HLA class I deficiency|blocked|HGMD || echinococcosis|12648282|GAD || diabetes, type 1|17491658|GAD || urinary calculus|16215317|GAD || rheumatoid arthritis|14749980|GAD || lupus erythematosus|12729048|GAD || inflammatory urogenital disease|10626334|GAD || hepatitis C, chronic|16886895|GAD || sclerosis, systemic|16112028|GAD || pemphigus|16690408|GAD || Graves' disease|12485523|GAD || Sjögren's syndrome|9324024|GAD || hepatitis C|10220507|GAD || Lupus|12729048|GAD || HIV|15385740|GAD || allergic rhinitis|16923719|GAD || Rheumatoid arthritis, association with|blocked|HGMD || Sjögren's syndrome, association with|blocked|HGMD || arthritis|12047361|GAD || juvenile arthritis|12195624|GAD || Behcet's Disease|12911283|GAD || diabetes, type 1|15336779|GAD || diabetes, type 1|12507827|GAD || arthritis|11229461|GAD || systemic lupus erythematosus|9014588|GAD || schizophrenia|15318034|GAD || familial bronchiectasis.|8523185|GAD || Alzheimer's disease|16595160|GAD || preeclampsia|16191421|GAD || systemic lupus erythematosus|8311559|GAD || psoriasis|17581627|GAD || rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders|12687213|GAD || diabetes, type 1|17192492|GAD || juvenile arthritis|11294565|GAD || measles|12786997|GAD || dermatitis, atopic|11960305|GAD || hepatitis B|17525827|GAD || rhinitis|12018331|GAD || Wegener-like granulomatosis|-|OMIM rs2449725 ENST00000297369 chr7 152114454 152114454 + 1 5splicesite -10.0 C/T CT CT->C(C/T) single CDS - - - rs2516747 uc001yrq.1 chr14 105215729 105215729 - 2801 5splicesite -6.0 A/G GA GA->(A/G)A single 3UTR - - - rs2516975 uc001yrq.1 chr14 105425138 105425138 - 2369 3splicesite -7.0 A/G GG GG->(A/G)G 7.78,10.64 single 3UTR - - - rs252174 ENST00000393064 chr12 95819012 95819012 - 6 5splicesite -16.0 A/C CC CC->(A/C)C single 3UTR - - - rs2549095 ENST00000339928 chr16 68545860 68545860 + 4 5splicesite -26.0 A/G AC AC->(A/G)C single CDS PF00188.17 - - rs2549095 ENST00000339928 chr16 68545860 68545860 + 5 3splicesite -17.0 A/G AC AC->(A/G)C 1.17,-0.35 single CDS PF00188.17 - - rs2582505 ENST00000398306 chr14 104480419 104480419 - 23 5splicesite -24.0 C/G CA CA->(C/G)A single CDS - - - rs2586529 uc002fzm.1 chr17 4777951 4777951 + 3 3splicesite -5.0 A/G CG CG->C(A/G) -0.42,8.33 single CDS - GP1BA recurrent coronary event|17303802|GAD || thrombocytopenia|12724616|GAD || cerebrovascular disease; sickle cell anemia|12871600|GAD || myocardial infarction|10755818|GAD || lymphoproliferative disorders; blood transfusion complications|14675395|GAD || coronary disease|12082590|GAD || myocardial infarction|11751671|GAD || coronary heart disease|11975906|GAD || age at first coronary bypass operation|14639140|GAD || Bernard-Soulier Syndrome|2308962|GAD || heart disease, ischemic; peripheral arterial disease|15386532|GAD || heart disease, ischemic|17105818|GAD || myocardial infarction|12073410|GAD || coronary artery stent thrombosis|17346829|GAD || transient ischemic attacks|17029210|GAD || atherosclerosis, generalized|15355504|GAD || VWF binding, association with|blocked|HGMD || Bernard-Soulier Syndrome|11776304|GAD || Bernard-Soulier Syndrome|7819107|GAD || myocardial infarct|17261793|GAD || stroke, ischemic|16118501|GAD || von Willebrand disease, platelet-type|-|OMIM || heart disease, ischemic|15564935|GAD || thrombus formation, arterial|11698306|GAD || myocardial infarct|17143557|GAD || brain hemorrhage|12499711|GAD || stroke|11418460|GAD || heart disease, ischemic; myocardial infarction; sudden cardiac death|15978109|GAD || Macrothrombocytopaenia|blocked|HGMD || lymphoproliferative disorders|15166939|GAD || hyperactive surface receptor|8384898|GAD || myocardial infarction; sudden cardiac death|11514372|GAD || Bernard-Soulier syndrome, type A|-|OMIM || bleeding complications|15892865|GAD || cerebrovascular disease, ischemic|14968555|GAD || cerebrovascular disease|14968555|GAD || myocardial infarct|15269835|GAD || thrombocytopenia|15477207|GAD || heart disease, ischemic|11994555|GAD || Pseudo-von Willebrand disease|blocked|HGMD || angina|15346842|GAD || Bernard-Soulier syndrome|blocked|HGMD || coronary artery disease|11167769|GAD || stroke, ischemic|15546585|GAD || breast cancer|12908817|GAD || atherosclerosis, coronary myocardial infarct|17619827|GAD || stroke|17196570|GAD || stroke|11260063|GAD || Resistance in vitro to low-dose aspirin|13678940|GAD || Myocardial infarction, association with|blocked|HGMD || {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}|-|OMIM || platelet aggregation|16986133|GAD rs2593776 ENST00000306412 chr2 176673525 176673525 + 2 5splicesite -10.0 C/G GG GG->G(C/G) single CDS - HOXD12 talipes equinovarus|16331564|GAD rs2593776 uc002ukg.1 chr2 176673525 176673525 + 2 5splicesite -10.0 C/G GG GG->G(C/G) single CDS - HOXD12 talipes equinovarus|16331564|GAD rs2596698 ENST00000335387 chr9 124677469 124677469 - 10 3splicesite 0.0 A/G AA AA->A(A/G) 0.96,7.58 single CDS - - - rs2623875 uc003bwl.1 chr3 12021168 12021168 + 1 5splicesite -30.0 A/C TA TA->T(A/C) single CDS - SYN2 schizophrenia|15271586|GAD || {Schizophrenia, susceptibility to}|-|OMIM || schizophrenia|16131404|GAD rs2623875 uc003bwm.1 chr3 12021168 12021168 + 1 5splicesite -30.0 A/C TA TA->T(A/C) single CDS - SYN2 schizophrenia|15271586|GAD || {Schizophrenia, susceptibility to}|-|OMIM || schizophrenia|16131404|GAD rs2668689 ENST00000393492 chr17 41019244 41019244 + 2 5splicesite -19.0 C/T TG TG->(C/T)G single 3UTR - - - rs2668689 ENST00000393492 chr17 41019244 41019244 + 3 3splicesite -13.0 C/T TG TG->(C/T)G -0.99,7.07 single 3UTR - - - rs2705132 ENST00000314014 chr12 47175030 47175030 + 7 5splicesite -3.0 A/G AT AT->(A/G)T single 3UTR - C12orf54 - rs2705132 uc001rrr.1 chr12 47175030 47175030 + 7 5splicesite -3.0 A/G AT AT->(A/G)T single 3UTR - C12orf54 - rs2709437 uc002qyl.1 chr2 6040943 6040943 + 2 5splicesite -11.0 C/T TA TA->(C/T)A single CDS - - - rs2731150 uc001yrq.1 chr14 106120470 106120470 - 79 3splicesite -10.0 A/G AA AA->A(A/G) 2.59,0.49 single 3UTR - - - rs276936 ENST00000360428 chr18 26865137 26865137 - 3 3splicesite -3.0 G/T AT AT->A(G/T) 0.04,8.41 single CDS - DSC3 Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM rs276936 ENST00000356582 chr18 26865137 26865137 - 3 3splicesite -3.0 G/T AT AT->A(G/T) -1.86,12.17 single CDS - DSC3 Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM rs276936 ENST00000389543 chr18 26865137 26865137 - 3 3splicesite -3.0 G/T AT AT->A(G/T) 13.32 single CDS - DSC3 Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM rs276936 uc002kwi.1 chr18 26865137 26865137 - 3 3splicesite -3.0 G/T AT AT->A(G/T) 5.28,-3.47 single CDS - DSC3 Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM rs276936 uc002kwj.1 chr18 26865137 26865137 - 3 3splicesite -3.0 G/T AT AT->A(G/T) 5.28,-3.47 single CDS - DSC3 Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM rs2794062 uc001eml.1 chr1 143815304 143815304 - 2 5splicesite -9.0 A/G TA TA->(T/C)A single CDS - SEC22B - rs283413 uc003huu.1 chr4 100487213 100487213 - 3 5splicesite -29.0 G/T TG TG->(G/T)G single CDS PF00107.17 ADH1C alcohol elimination|14745297|GAD || Alcoholism, increased risk, association with ?|blocked|HGMD || cleft lip with cleft palate cleft lip without cleft palate cleft palate|16415175|GAD || drug dependence|17185388|GAD || aerodigestive tract cancers|14732773|GAD || diabetes, type 2|17563066|GAD || cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic|16287084|GAD || alcoholism|15318112|GAD || heart muscle disease, alcoholic|11696658|GAD || medicamentosa-like dermatitis, trichloroethylene|16758956|GAD || alcohol consumption blood pressure, arterial cholesterol, HDL heart disease, ischemic|17379229|GAD || alcohol dependency|12884000|GAD || colorectal cancer|17449906|GAD || colorectal cancer|12750236|GAD || liver cancer|16132793|GAD || alcohol dependence|16685648|GAD || alcohol abuse cirrhosis, alcoholic pancreatitis, chronic|17454860|GAD || head and neck cancer|15767341|GAD || Parkinson disease, association with|blocked|HGMD || breast cancer|17295732|GAD || skin cancer; squamous cell carcinoma|11303599|GAD || breast cancer|16344274|GAD || alcohol abuse|15370874|GAD || breast cancer|17268812|GAD || Stroke|14726542|GAD || alcohol abuse|12884000|GAD || breast cancer|11045794|GAD || head and neck cancer|11981277|GAD || Parkinson's disease|15642852|GAD || alcoholism|15863807|GAD || colorectal cancer|16039674|GAD || head and neck cancer|12376487|GAD || |14634838|GAD || alcohol abuse|17134660|GAD || colorectal cancer|17517051|GAD || alcohol abuse|12766633|GAD || cirrhosis; pancreatitis|15220553|GAD || cirrhosis, alcoholic|11748356|GAD || alcohol abuse|12517056|GAD || cholesterol, HDL; lipoprotein|12658118|GAD || cirrhosis; pancreatitis; esophageal cancer|11051375|GAD || lipoprotein|16051248|GAD || bladder cancer|11752857|GAD || esophageal cancer|15327835|GAD || alcoholism and alcoholic liver disease|15519646|GAD || hypopharyngeal cancer; laryngeal cancer; oral cancer; oropharynx cancer|14732773|GAD || breast cancer|17018785|GAD || {Parkinson disease, susceptibility to}|-|OMIM || alcohol abuse; smoking behavior|15654505|GAD rs28378190 ENST00000340920 chr7 585017 585017 - 10 3splicesite -4.0 C/G AC AC->A(C/G) -11.41,-2.66 single CDS - PRKAR1B - rs2838010 ENST00000398646 chr21 41616503 41616503 + 1 5splicesite 1.0 A/T GA GA->G(A/T) single CDS - - - rs2838010 ENST00000337056 chr21 41616503 41616503 + 2 5splicesite 1.0 A/T GA GA->G(A/T) single CDS - - - rs28384078 uc003ldk.1 chr5 138235657 138235657 + 2 5splicesite -17.0 C/T GC GC->(G/A)C single 5UTR - LRRTM2 - rs28387178 ENST00000393068 chr2 127156064 127156064 + 1 5splicesite 3.0 C/G GG GG->(C/G)G single CDS - - - rs28400887 uc003nph.1 chr6 30183882 30183882 + 5 3splicesite 1.0 C/T GG GG->(G/A)G 0.12,-2.86 single CDS PF02891.11,PF00097.16 TRIM31 - rs2842899 uc003qdh.1 chr6 132901302 132901302 - 1 5splicesite -30.0 A/T TA TA->(T/A)A single CDS PF00001.12 TAAR9 TRAR3 null allele|blocked|HGMD rs28488177 uc001yrq.1 chr14 105430782 105430782 + 2284 3splicesite -6.0 C/T CG CG->C(G/A) 8.55,10.64 single 3UTR - - - rs2850766 uc002liw.1 chr18 59149547 59149547 + 10 5splicesite -24.0 C/G CT CT->(G/C)T single 5UTR - FVT1 Lymphoma/leukemia, B-cell, variant|-|OMIM || pregnancy loss, recurrent|16711541|GAD rs2854761 uc001yrq.1 chr14 105448581 105448581 - 2022 3splicesite -1.0 A/C AA AA->(A/C)A 2.59,0.49 single 3UTR - - - rs2857335 uc001yrq.1 chr14 105455652 105455652 - 1922 3splicesite -13.0 C/T CT CT->C(C/T) 8.55,10.64 single 3UTR - - - rs2857344 uc001yrq.1 chr14 105449876 105449876 - 2006 3splicesite -3.0 A/G CG CG->C(A/G) 0.49 single 3UTR - - - rs2857344 uc001yrq.1 chr14 105449876 105449876 - 2005 5splicesite -10.0 A/G GC GC->(A/G)C single 3UTR - - - rs2857360 uc001yrq.1 chr14 105432457 105432457 - 2249 3splicesite -2.0 C/G TG TG->T(C/G) 8.55,10.64 single 3UTR - - - rs2857375 uc001yrq.1 chr14 105408515 105408515 - 2560 5splicesite -26.0 A/G TA TA->T(A/G) single 3UTR - - - rs28575804 ENST00000359915 chr4 70291919 70291919 + 1 5splicesite 0.0 A/G AT AT->(A/G)T single CDS - - - rs28602483 ENST00000333351 chr3 1612815 1612815 + 1 5splicesite -8.0 C/T GA GA->(G/A)A single 3UTR - - - rs2862716 uc003lwj.1 chr5 156412150 156412150 + 5 3splicesite -9.0 A/G TG TG->(T/C)G 11.40,5.14 single CDS PF01688.8 HAVCR1 {Atopy, resistance to}|-|OMIM || Allergic diseases, sucept., association with ?|blocked|HGMD || dermatitis and eczema|16940744|GAD || asthma|17117951|GAD || asthma|17570927|GAD || atopic asthma|12618867|GAD || asthma|15867855|GAD rs28633116 ENST00000366180 chr5 175903982 175903982 + 1 5splicesite -26.0 C/T CT CT->(C/T)T single 3UTR - - - rs28633116 ENST00000366180 chr5 175903982 175903982 + 2 3splicesite -5.0 C/T CC CC->C(C/T) 2.58,6.88 single 3UTR - - - rs28673406 uc001yrq.1 chr14 105931629 105931629 + 174 5splicesite -24.0 G/T CC CC->C(C/A) single 3UTR - - - rs28688207 ENST00000374943 chr6 32736638 32736638 + 5 3splicesite 1.0 C/T AA AA->A(G/A) 10.21 single CDS - - - rs28688207 ENST00000399074 chr6 32736638 32736638 + 5 3splicesite 1.0 C/T AA AA->A(G/A) 9.14 single CDS - - - rs28688207 ENST00000334399 chr6 32736638 32736638 + 5 3splicesite 1.0 C/T AA AA->A(G/A) 0.38,11.68 single CDS - - - rs28688450 ENST00000380981 chr22 47674481 47674481 + 3 3splicesite 1.0 A/G AA AA->A(A/G) 7.80 single 5UTR - - - rs28720026 uc001mob.1 chr11 18247456 18247456 + 3 5splicesite -35.0 C/G AC AC->A(C/G) single CDS PF00277.9 SAA1 Familial Mediterranean Fever|12687559|GAD || AA amyloidosis, association with|blocked|HGMD || amyloidosis; Familial Mediterranean Fever|16152805|GAD || amyloidosis|17039310|GAD || rheumatoid arthritis|11407685|GAD || amyloidosis; Familial Mediterranean Fever|15170927|GAD || amyloidosis|14696796|GAD || amyloidosis|16219644|GAD || amyloidosis|12762135|GAD || hypertension|11592044|GAD || amyloidosis; Familial Mediterranean Fever|15018633|GAD || Familial Mediterranean Fever|16118480|GAD || amyloidosis|16011988|GAD || Serum amyloid variant|blocked|HGMD rs28720026 uc001moc.1 chr11 18247456 18247456 + 3 5splicesite -35.0 C/G AC AC->A(C/G) single CDS PF00277.9 SAA1 Familial Mediterranean Fever|12687559|GAD || AA amyloidosis, association with|blocked|HGMD || amyloidosis; Familial Mediterranean Fever|16152805|GAD || amyloidosis|17039310|GAD || rheumatoid arthritis|11407685|GAD || amyloidosis; Familial Mediterranean Fever|15170927|GAD || amyloidosis|14696796|GAD || amyloidosis|16219644|GAD || amyloidosis|12762135|GAD || hypertension|11592044|GAD || amyloidosis; Familial Mediterranean Fever|15018633|GAD || Familial Mediterranean Fever|16118480|GAD || amyloidosis|16011988|GAD || Serum amyloid variant|blocked|HGMD rs2884015 ENST00000280305 chr19 49470637 49470637 + 2 5splicesite -10.0 A/T TT TT->(A/T)T single CDS PF00096.17 ZNF233 - rs2884016 ENST00000280305 chr19 49470639 49470639 + 3 3splicesite -30.0 A/G GT GT->(A/G)T 2.41,8.45 single CDS PF00096.17 ZNF233 - rs28928897 ENST00000340966 chr17 37034007 37034007 - 1 5splicesite -15.0 A/C/G GC GC->(A/C/G)C single CDS - - - rs2901166 ENST00000369156 chr10 120503948 120503948 + 2 3splicesite -27.0 C/G CC CC->(G/C)C 7.87,6.67 single 3UTR - - - rs2930230 ENST00000316859 chr16 83874666 83874666 - 1 5splicesite 3.0 A/G GC GC->G(T/C) single 3UTR - TMEM148 - rs2942857 ENST00000265403 chr4 69722576 69722576 + 3 3splicesite 5.0 A/C CG CG->(A/C)G 7.53,6.44 single CDS - UGT2B10 - rs2942857 uc003hee.1 chr4 69722576 69722576 + 3 3splicesite 5.0 A/C CG CG->(A/C)G -0.30,8.45 single CDS PF00201.9 UGT2B10 - rs2969356 uc002ula.1 chr2 177210984 177210984 - 1 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - - - rs304725 uc002owx.1 chr19 48790803 48790803 + 1 5splicesite -13.0 C/G GA GA->(G/C)A single CDS - IRGQ - rs3125001 ENST00000371700 chr9 138525082 138525082 + 17 3splicesite -3.0 C/T CG CG->C(G/A) 1.27,9.87 single CDS PF07684.3 - - rs3208833 uc004aij.1 chr9 73488311 73488311 - 24 5splicesite -8.0 A/T TT TT->(A/T)T single 5UTR - TMEM2 - rs3208834 uc004aij.1 chr9 73488310 73488310 - 24 5splicesite -8.0 A/T TT TT->T(A/T) single 5UTR - TMEM2 - rs3211442 ENST00000311505 chr16 27151864 27151864 - 6 3splicesite -44.0 C/G GC GC->G(C/G) 5.14,11.65 single CDS - NSMCE1 - rs34019594 uc001yrq.1 chr14 105762702 105762702 + 530 5splicesite -37.0 C/T AG AG->(G/A)G single 3UTR - - - rs34117018 ENST00000299997 chr19 61698226 61698226 + 3 3splicesite -1.0 A/G AA AA->(A/G)A 2.26,7.43 single CDS - - - rs34152452 ENST00000400027 chr4 9095010 9095010 + 2 3splicesite -4.0 A/C AC AC->A(A/C) 8.77,0.41 single 3UTR - - - rs34153015 ENST00000354301 chr11 76429235 76429235 + 4 3splicesite -31.0 A/G GC GC->(A/G)C 7.87,-1.23 single CDS - B3GNT6 - rs34153015 uc001oxw.1 chr11 76429235 76429235 + 4 3splicesite -14.0 A/G GG GG->G(A/G) 13.37 single CDS - B3GNT6 - rs34270096 ENST00000398770 chr7 56561047 56561047 + 1 5splicesite 0.0 C/T GA GA->(G/A)A single CDS - - - rs34398803 uc001yrq.1 chr14 105447923 105447923 + 2030 5splicesite -18.0 A/T CA CA->C(T/A) single 3UTR - - - rs34894886 uc001yrq.1 chr14 105492774 105492774 + 1649 3splicesite -18.0 C/T CA CA->C(G/A) 2.59,2.11 single 3UTR - - - rs34970372 uc001yrq.1 chr14 105466725 105466725 + 1811 3splicesite -29.0 C/G CC CC->(G/C)C 10.86,2.11 single 3UTR - - - rs34970372 uc001yrq.1 chr14 105466725 105466725 + 1810 5splicesite -11.0 C/G CC CC->(G/C)C single 3UTR - - - rs35012773 ENST00000400177 chr18 3252784 3252784 + 1 5splicesite -10.0 C/T GC GC->G(C/T) single 5UTR - - - rs35023711 ENST00000393967 chr11 66286244 66286244 + 2 3splicesite -20.0 A/C GT GT->(T/G)T 8.41,-0.34 single 3UTR - - - rs35031964 ENST00000393472 chr17 41693537 41693537 + 3 3splicesite -13.0 A/G TG TG->(T/C)G 11.13,2.37 single 3UTR - - - rs35031964 ENST00000393472 chr17 41693537 41693537 + 2 5splicesite -19.0 A/G TG TG->(T/C)G single 3UTR - - - rs35083199 ENST00000262436 chr17 57495242 57495242 + 2 5splicesite -32.0 C/T AG AG->A(G/A) single CDS - MED13 - rs35188041 ENST00000375674 chr11 107514870 107514870 + 5 5splicesite -11.0 A/C CA CA->(A/C)A single CDS - - - rs351988 ENST00000300947 chr19 766086 766086 + 5 3splicesite -9.0 A/G TG TG->(T/C)G 6.81,-0.44 single CDS - - - rs35277306 ENST00000366091 chr1 168257730 168257730 + 2 3splicesite -10.0 A/T AA AA->A(T/A) 3.27 single 3UTR - - - rs35290911 ENST00000361594 chr14 22958892 22958892 + 26 5splicesite 2.0 A/G GC GC->G(T/C) single CDS PF00063.12 MYH7 cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD rs35290911 ENST00000355349 chr14 22958892 22958892 + 27 5splicesite 2.0 A/G GC GC->G(T/C) single CDS PF00063.12 - - rs35290911 ENST00000397183 chr14 22958892 22958892 + 27 5splicesite 2.0 A/G GC GC->G(T/C) single CDS PF00063.12 - - rs35290911 uc001wjx.1 chr14 22958892 22958892 + 27 5splicesite 2.0 A/G GC GC->G(T/C) single CDS PF00063.12 MYH7 cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD rs35290911 uc001wjw.1 chr14 22958892 22958892 + 26 5splicesite 2.0 A/G GC GC->G(T/C) single CDS PF00063.12 MYH7 cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD rs35379048 ENST00000397483 chr6 7530489 7530489 + 2 3splicesite -7.0 A/G CG CG->C(A/G) 6.04,-2.56 single CDS - - - rs35453127 ENST00000392215 chr2 207259747 207259747 + 5 3splicesite -33.0 C/G GC GC->(G/C)C 1.16,9.91 single 3UTR - - - rs35620026 ENST00000366336 chr7 12497693 12497693 + 1 5splicesite -14.0 C/T CG CG->(C/T)G single 3UTR - - - rs35620026 ENST00000366336 chr7 12497693 12497693 + 2 3splicesite -19.0 C/T TC TC->T(C/T) 2.91,11.66 single 3UTR - - - rs35657735 ENST00000398903 chr8 144225143 144225143 + 4 5splicesite 0.0 C/T GA GA->G(G/A) single CDS - - - rs35734837 uc001yrq.1 chr14 105543585 105543585 + 1380 3splicesite -19.0 A/G GC GC->G(T/C) 10.86,6.01 single 3UTR - - - rs358231 uc003gqp.1 chr4 22429602 22429602 - 6 3splicesite -16.0 A/T AA AA->A(T/A) 9.81 single CDS PF00232.9 GBA3 Cytosolic beta-glucosidase deficiency, association|blocked|HGMD rs35849660 ENST00000380256 chr11 5226206 5226206 - 4 3splicesite -36.0 A/G GT GT->(A/G)T -1.21,12.16 single CDS PF00042.13 - - rs35916805 uc001yrq.1 chr14 105800611 105800611 + 383 3splicesite -16.0 C/T GC GC->(G/A)C -2.05,12.21 single 3UTR - - - rs35944133 ENST00000294213 chr3 52430761 52430761 + 10 3splicesite -11.0 A/G AA AA->(A/G)A 0.75,10.86 single CDS - PHF7 - rs35958560 ENST00000242050 chr7 27171494 27171494 - 3 5splicesite -5.0 C/G GC GC->G(C/G) single CDS PF00046.20 - - rs36168171 ENST00000395298 chr14 55534721 55534721 + 1 5splicesite -15.0 A/G CT CT->(T/C)T single 3UTR - - - rs3667 ENST00000395364 chr6 32718912 32718912 + 5 3splicesite 3.0 A/G AA AA->A(A/G) 10.46 single 3UTR - - - rs3745936 ENST00000187608 chr19 46784655 46784655 - 7 3splicesite 4.0 A/T TG TG->(T/A)G 4.35 single 3UTR - CEACAM21 - rs3745936 uc002org.1 chr19 46784655 46784655 - 7 3splicesite 4.0 A/T TG TG->(T/A)G 13.32,4.72 single 3UTR - CEACAM21 - rs3752944 uc001yrq.1 chr14 105401162 105401162 + 2741 3splicesite -27.0 A/G CG CG->(T/C)G 12.21 single 3UTR - - - rs3752945 uc001yrq.1 chr14 105401171 105401171 + 2740 5splicesite -23.0 A/C CG CG->C(T/G) single 3UTR - - - rs3765605 ENST00000383614 chr6 30083973 30083973 - 2 5splicesite -22.0 G/T CC CC->C(C/A) single CDS - - - rs3794461 uc001yrq.1 chr14 105429148 105429148 + 2307 3splicesite -33.0 A/G CT CT->C(T/C) 4.17,2.00 single 3UTR - - - rs3794713 ENST00000317267 chr17 78154905 78154905 - 1 5splicesite -23.0 A/G GG GG->(A/G)G single 3UTR - - - rs3795543 ENST00000370482 chr1 89252346 89252346 - 5 5splicesite -5.0 A/G AG AG->(A/G)G single CDS PF02841.5 GBP3 - rs3828800 ENST00000399064 chr6 32744041 32744041 + 1 5splicesite 0.0 A/G GC GC->(A/G)C single CDS - - - rs3863209 uc003nog.1 chr6 30003907 30003907 + 3 5splicesite 1.0 A/G GC GC->G(T/C) single 3UTR - - - rs3886875 ENST00000394916 chr3 52429302 52429302 - 1 5splicesite -2.0 A/C AT AT->A(T/G) single CDS - - - rs3920038 ENST00000395707 chr14 51605398 51605398 - 2 3splicesite -6.0 A/C CG CG->(A/C)G 10.98,2.23 single CDS - - - rs393658 ENST00000366304 chr22 19690566 19690566 + 1 5splicesite -9.0 A/C TT TT->T(T/G) single CDS - - - rs3964827 uc001yrq.1 chr14 105636597 105636597 - 1012 3splicesite -34.0 G/T TT TT->T(G/T) 10.75,3.13 single 3UTR - - - rs4050110 ENST00000354486 chr22 21319566 21319566 - 3 5splicesite 0.0 C/T AT AT->(G/A)T single CDS - GGTL4 - rs4050110 uc002zwq.1 chr22 21319566 21319566 - 3 5splicesite 0.0 C/T AT AT->(G/A)T single CDS PF01019.12 GGTL4 - rs4066728 ENST00000317103 chrX 8099147 8099147 - 1 5splicesite 0.0 A/G AT AT->(A/G)T single 3UTR - VCX2 - rs4066728 uc004csb.1 chrX 8099147 8099147 - 1 5splicesite 0.0 A/G AT AT->(A/G)T single 3UTR - VCX2 - rs4075012 ENST00000331814 chr3 46760359 46760359 + 8 5splicesite 1.0 C/T AT AT->(G/A)T single CDS - - - rs4075012 uc003cqh.1 chr3 46760359 46760359 + 2 5splicesite -29.0 C/T GA GA->G(G/A) single CDS PF00089.17 TESSP5 - rs4098492 ENST00000394739 chr9 114164993 114164993 - 2 3splicesite -21.0 C/T GA GA->G(G/A) 8.77,0.41 single 3UTR - - - rs4107078 ENST00000399720 chr4 49254553 49254553 - 6 5splicesite -18.0 A/G AT AT->A(T/C) single CDS - - - rs41282202 ENST00000396296 chr10 27440824 27440824 + 21 3splicesite -1.0 C/T AT AT->(G/A)T 8.70 single CDS - - - rs430178 uc001gav.1 chr1 159836043 159836043 - 8 3splicesite 1.0 C/G AC AC->A(G/C) 0.47,-8.13 single CDS - FCGR2C Thrombocytopenic purpura, autoimmune|-|OMIM rs4346114 uc001yrq.1 chr14 105990332 105990332 + 140 3splicesite -17.0 G/T CT CT->(C/A)T 11.88,3.13 single 3UTR - - - rs4479754 uc003ihj.1 chr4 139319822 139319822 + 11 5splicesite -29.0 C/T GG GG->(G/A)G single CDS - SLC7A11 - rs4525095 ENST00000342960 chr1 144004631 144004631 - 1 5splicesite 2.0 A/C TT TT->(T/G)T single 5UTR - - - rs4525095 ENST00000369335 chr1 144004631 144004631 - 1 5splicesite 2.0 A/C TT TT->(T/G)T single 5UTR - - - rs4525095 ENST00000369364 chr1 144004631 144004631 - 1 5splicesite 2.0 A/C TT TT->(T/G)T single 5UTR - NBPF10 - rs453637 ENST00000343883 chr5 849296 849296 - 2 5splicesite -2.0 A/G GG GG->G(A/G) single CDS - - - rs45610836 uc001yrq.1 chr14 105463333 105463333 + 1839 5splicesite -21.0 C/T GG GG->(G/A)G single 3UTR - - - rs459353 uc002zvw.1 chr22 21324991 21324991 - 93 3splicesite -12.0 A/G TC TC->T(T/C) 1.25,9.31 single 3UTR - - - rs4604805 uc001krd.1 chr10 102251399 102251399 + 10 5splicesite 3.0 C/G GC GC->G(G/C) single 3UTR - SEC31L2 - rs4648562 ENST00000378411 chr1 2525473 2525473 + 6 3splicesite -26.0 A/C GC GC->(T/G)C 9.39,7.76 single CDS - MMEL1 - rs4732519 uc003ued.1 chr7 75459763 75459763 + 2 5splicesite -24.0 A/G TA TA->(T/C)A single CDS PF07851.4 TMPIT - rs4751995 uc001lcq.1 chr10 118387874 118387874 + 13 3splicesite -22.0 A/G GA GA->G(A/G) 8.63,0.03 single CDS - PNLIPRP2 - rs4778639 ENST00000394656 chr15 79387506 79387506 + 18 3splicesite 3.0 G/T AT AT->A(G/T) 10.20,1.45 single CDS - IL16 asthma|17303923|GAD || Crohn's disease|12706406|GAD || dermatitis and eczema|14657881|GAD || periodontitis|16178875|GAD || asthma|16387589|GAD || asthma; atopy|15784111|GAD || hepatitis C|16447204|GAD rs4778639 uc002bgd.1 chr15 79387506 79387506 + 21 3splicesite 3.0 G/T AT AT->A(G/T) 0.39,0.71 single CDS - IL16 asthma|17303923|GAD || Crohn's disease|12706406|GAD || dermatitis and eczema|14657881|GAD || periodontitis|16178875|GAD || asthma|16387589|GAD || asthma; atopy|15784111|GAD || hepatitis C|16447204|GAD rs4822321 uc002zvw.1 chr22 21469482 21469482 + 218 5splicesite -32.0 A/G CG CG->C(A/G) single 3UTR - - - rs4852974 uc002sjk.1 chr2 73781439 73781439 + 2 5splicesite -17.0 A/G TA TA->(T/C)A single CDS - NAT8B - rs4883543 ENST00000320557 chr12 131712077 131712077 - 22 3splicesite -3.0 A/G GG GG->(A/G)G 8.41 single CDS - - - rs489408 ENST00000397635 chr1 38016372 38016372 - 4 3splicesite -11.0 C/T GG GG->(G/A)G 0.04,0.58 single 3UTR - - - rs4900072 ENST00000389877 chr14 90706285 90706285 + 5 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 ENST00000321157 chr14 90706285 90706285 + 5 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 uc001xze.1 chr14 90706285 90706285 + 6 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 uc001xzf.1 chr14 90706285 90706285 + 5 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 uc001xzb.1 chr14 90706285 90706285 + 7 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 uc001xzc.1 chr14 90706285 90706285 + 5 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4900072 uc001xyx.1 chr14 90706285 90706285 + 7 5splicesite 1.0 C/T GC GC->G(C/T) single CDS PF07286.3 C14orf159 - rs4940595 uc002ljk.1 chr18 59530818 59530818 + 3 5splicesite -24.0 G/T TA TA->(G/T)A single CDS PF00079.11 SERPINB11 - rs4950402 ENST00000374318 chr1 145258026 145258026 + 2 5splicesite -16.0 G/T TT TT->T(G/T) single 3UTR - - - rs4950402 ENST00000374318 chr1 145258026 145258026 + 3 3splicesite -32.0 G/T TT TT->T(G/T) -2.93,5.82 single 3UTR - - - rs4972073 uc002stk.1 chr2 89018928 89018928 + 89 3splicesite -29.0 A/C GC GC->(T/G)C 7.07,-13.72 single 3UTR - - - rs5016968 ENST00000397723 chr17 60184679 60184679 - 8 5splicesite -9.0 C/G CT CT->(C/G)T single CDS PF00514.14 - - rs5020285 uc003vgs.1 chr7 113304549 113304549 + 5 3splicesite -16.0 A/C TT TT->T(T/G) single 5UTR - PPP1R3A diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD rs505058 ENST00000368298 chr1 154372809 154372809 - 7 5splicesite -1.0 A/G AT AT->A(T/C) single CDS - - - rs513131 ENST00000375726 chr11 104266310 104266310 - 5 5splicesite 2.0 A/G AT AT->(A/G)T single CDS - CASP12 Sepsis, susceptibility, association with|blocked|HGMD || |16917906|GAD || {Sepsis, susceptibility to}|-|OMIM rs55635838 ENST00000259090 chr8 11603245 11603245 + 2 3splicesite -16.0 A/G GG GG->(A/G)G 2.96,5.89 single CDS - GATA4 Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD rs55670878 ENST00000259090 chr8 11603243 11603243 + 1 5splicesite -19.0 C/T TT TT->(C/T)T single CDS - GATA4 Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD rs55710139 ENST00000249062 chr22 19900373 19900373 + 6 3splicesite -3.0 C/T GG GG->(G/A)G 4.62 single 3UTR - GGT2 [Gamma-glutamyltransferase, familial high serum]|-|OMIM rs55793274 ENST00000379672 chr17 12799921 12799921 + 15 3splicesite -11.0 A/T AT AT->(A/T)T 8.96,2.46 single CDS PF00620.18 - - rs55803027 ENST00000393026 chr11 111643773 111643773 + 1 5splicesite -41.0 A/T TA TA->(T/A)A single 3UTR - - - rs55819243 ENST00000285021 chr3 14174971 14174971 + 10 5splicesite -12.0 C/G GG GG->G(G/C) single CDS - XPC bladder cancer|17052994|GAD || lung cancer|14690560|GAD || pancreatic cancer|17086695|GAD || Xeroderma pigmentosum, group C|-|OMIM || esophageal cancer gastric cardiac cancer|16965652|GAD || oral cancer|16373199|GAD || cytogenetic studies|15471894|GAD || lung cancer|15700316|GAD || esophageal cancer|15878910|GAD || melanoma|17164380|GAD || breast cancer|16399771|GAD || bladder cancer|14688016|GAD || prostate cancer|17196815|GAD || esophageal cancer|16571649|GAD || lung cancer|16351803|GAD || p53 alterations|17374967|GAD || lung cancer|16086280|GAD || cytogenetic studies|16043197|GAD || bladder cancer|17164382|GAD || breast cancer|15010895|GAD || colorectal cancer|17119055|GAD || breast cancer|16823510|GAD || DNA repair capacity|16985021|GAD || lung cancer|15729698|GAD || bladder cancer|15886698|GAD || bladder cancer|16537713|GAD || Decreased function, association with|blocked|HGMD || breast cancer|16002061|GAD || skin cancer, non-melanoma|15914210|GAD || melanoma|15731165|GAD || lung cancer|15533908|GAD || lung cancer|17531525|GAD || lung cancer|16061005|GAD || kidney cancer|16510122|GAD || oral cancer|16393248|GAD || DNA repair capacity|11872635|GAD || head and neck cancer|11981277|GAD || skin cancer, non-melanoma|15863269|GAD || melanoma|16258177|GAD || melanoma|15494739|GAD || colorectal cancer|17363013|GAD || Xeroderma pigmentosum (C)|blocked|HGMD || cytogenetic studies|17078101|GAD || lung cancer|17498315|GAD || head and neck cancer|15657918|GAD || colorectal cancer|16492920|GAD || cytogenetic studies|15992842|GAD || oral premalignant lesions|17575242|GAD || lung cancer|15849729|GAD || lung cancer|15837542|GAD || endometrial cancer|16284373|GAD || cytogenetic studies|14729591|GAD rs55864001 ENST00000393598 chr17 39694924 39694924 - 1 5splicesite 2.0 C/T GC GC->(C/T)C single 3UTR - - - rs55924349 ENST00000393237 chr2 112496423 112496423 + 25 5splicesite -21.0 C/G GA GA->(C/G)A single CDS - - - rs55927444 ENST00000380904 chr4 74504669 74504669 + 14 5splicesite -1.0 C/T CT CT->(C/T)T single CDS - - - rs55946993 ENST00000393266 chr7 127997923 127997923 + 1 5splicesite -2.0 C/T GA GA->G(G/A) single 3UTR - - - rs55981536 ENST00000393598 chr17 39694923 39694923 - 1 5splicesite 2.0 A/C GC GC->G(A/C) single 3UTR - - - rs55997063 ENST00000396588 chr2 227826400 227826400 + 13 3splicesite -18.0 A/T CT CT->C(A/T) 3.52,12.27 single CDS - - - rs55997063 ENST00000396574 chr2 227826400 227826400 + 13 3splicesite -18.0 A/T CT CT->C(A/T) 3.17,11.92 single CDS - - - rs55997063 ENST00000304990 chr2 227826400 227826400 + 13 3splicesite -18.0 A/T CT CT->C(A/T) -2.82,-3.61 single CDS - - - rs55997063 ENST00000315699 chr2 227826400 227826400 + 13 3splicesite -18.0 A/T CT CT->C(A/T) -0.56,1.70 single CDS - - - rs55997063 ENST00000335583 chr2 227826400 227826400 + 13 3splicesite -18.0 A/T CT CT->C(A/T) 8.75,10.04 single CDS - - - rs56014161 ENST00000327910 chr17 75525335 75525335 + 2 3splicesite -26.0 C/T CG CG->C(G/A) 5.04,1.43 single 3UTR - - - rs56014161 ENST00000327910 chr17 75525335 75525335 + 1 5splicesite -20.0 C/T GC GC->(G/A)C single 3UTR - - - rs56019407 ENST00000379492 chr9 33432884 33432884 - 4 5splicesite -10.0 G/T GA GA->(G/T)A single CDS - AQP3 Aquaporin 3 deficiency|blocked|HGMD || [Blood group GIL]|-|OMIM rs56060925 uc002zvw.1 chr22 21112150 21112150 + 51 3splicesite -6.0 A/G TG TG->T(A/G) 1.25,9.31 single 3UTR - - - rs56142215 ENST00000382242 chr14 43659285 43659285 + 2 3splicesite -36.0 C/T GA GA->G(G/A) 7.37,-1.23 single 3UTR - - - rs56180919 ENST00000393266 chr7 127997922 127997922 + 2 3splicesite -19.0 A/T TG TG->(T/A)G 1.36,9.42 single 3UTR - - - rs56239500 ENST00000330775 chr11 118403645 118403645 + 4 3splicesite -21.0 A/C GT GT->G(T/G) 8.32,4.96 single CDS PF00083.15,PF07690.7 SLC37A4 glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD rs56239500 ENST00000357590 chr11 118403645 118403645 + 5 3splicesite -21.0 A/C GT GT->G(T/G) 7.37,12.38 single CDS PF00083.15,PF07690.7 SLC37A4 glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD rs56239500 uc001pus.1 chr11 118403645 118403645 + 5 3splicesite -21.0 A/C GT GT->G(T/G) 0.27,8.33 single CDS PF00654.11,PF00083.15,PF07690.7 SLC37A4 glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD rs56246713 ENST00000338759 chr6 41213072 41213072 + 2 3splicesite 5.0 G/T AT AT->A(G/T) 0.38 single CDS - - - rs56287138 uc001yrq.1 chr14 105400744 105400744 + 2752 3splicesite -11.0 A/C CT CT->C(T/G) 11.88,9.65 single 3UTR - - - rs56291320 uc001dlu.1 chr1 86818490 86818490 + 15 3splicesite -2.0 A/T AC AC->(A/T)C 12.37,3.62 single CDS - CLCA4 - rs56298202 ENST00000392992 chr17 56836948 56836948 + 5 5splicesite -12.0 C/G CG CG->(C/G)G single 3UTR - - - rs56314617 ENST00000368122 chr1 157440686 157440686 + 2 3splicesite -35.0 A/T CA CA->(A/T)A 1.13,-2.13 single 5UTR - DARC |15783300|GAD || Duffy blood group antigen, absence|blocked|HGMD || Duffy blood group variation|blocked|HGMD rs56357931 uc002mih.1 chr19 7736670 7736670 + 4 5splicesite -11.0 A/G GC GC->(A/G)C single CDS PF05701.2 CLEC4M SARS infection|16369534|GAD || HIV|16453266|GAD || hepatitis C|16364081|GAD || SARS infection, protection against|-|OMIM || HIV|17530994|GAD || HIV|12403912|GAD || |17509452|GAD rs56391658 ENST00000327003 chr11 56264802 56264802 + 1 5splicesite -24.0 A/C GC GC->G(A/C) single 3UTR - - - rs56391658 ENST00000327003 chr11 56264802 56264802 + 2 3splicesite -26.0 A/C GC GC->G(A/C) -2.01,3.30 single 3UTR - - - rs56660236 ENST00000400124 chr22 40101559 40101559 + 1 5splicesite -24.0 A/G CC CC->(T/C)C single CDS - - - rs56778768 ENST00000399720 chr4 49249278 49249278 + 3 3splicesite 1.0 A/C AA AA->A(A/C) 0.71,8.77 single CDS - - - rs57083553 ENST00000397321 chr12 131559542 131559542 + 8 3splicesite -37.0 A/G TC TC->T(T/C) 2.83,11.58 single CDS - MUC8 - rs57149276 ENST00000397509 chr15 38560643 38560643 + 1 5splicesite -27.0 C/T GG GG->G(G/A) single 3UTR - - - rs57342833 ENST00000328897 chrX 152611680 152611680 + 1 5splicesite -24.0 G/T GG GG->(G/T)G single CDS PF00209.9 - - rs57724954 ENST00000319809 chrX 131919893 131919893 + 3 3splicesite -9.0 A/T AT AT->(T/A)T 0.58 single CDS - HS6ST2 - rs580060 ENST00000401003 chr1 148547826 148547826 - 4 3splicesite -14.0 G/T TC TC->(G/T)C 5.28,-3.47 single CDS - - - rs58084516 uc001yrq.1 chr14 105558733 105558733 + 1315 3splicesite -1.0 C/T GG GG->(G/A)G 10.62,1.87 single 3UTR - - - rs58133442 uc001yrq.1 chr14 105554745 105554745 + 1340 3splicesite -16.0 C/T GT GT->(G/A)T 0.90,1.87 single 3UTR - - - rs58157868 ENST00000398903 chr8 144225207 144225207 + 3 5splicesite -37.0 G/T CA CA->C(C/A) single CDS - - - rs58264281 uc002qod.1 chr19 62434301 62434301 + 1 5splicesite -14.0 C/T GC GC->G(C/T) single 5UTR - AURKC - rs58541611 ENST00000368298 chr1 154372808 154372808 + 7 5splicesite -1.0 A/T AT AT->(A/T)T single CDS - - - rs58545118 uc001gvj.1 chr1 198905665 198905665 + 2 3splicesite -12.0 G/T TC TC->T(C/A) 10.20,1.60 single 3UTR - DDX59 - rs588703 uc002icl.1 chr17 38419019 38419019 - 5 3splicesite -8.0 C/T AT AT->(G/A)T 5.68,-3.07 single CDS PF07292.4 IFI35 - rs5927639 ENST00000378932 chrX 30827107 30827107 + 2 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - MAP3K7IP3 - rs5927639 ENST00000288422 chrX 30827107 30827107 + 2 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - MAP3K7IP3 - rs5927639 uc004dck.1 chrX 30827107 30827107 + 2 5splicesite -1.0 A/G GC GC->G(T/C) single 3UTR - TAB3 - rs59550975 ENST00000356294 chr1 246314371 246314371 + 1 5splicesite -19.0 A/G CG CG->(T/C)G single 3UTR - - - rs60006344 uc001yrq.1 chr14 105558732 105558732 + 1315 3splicesite -1.0 C/G GG GG->G(G/C) 10.62,1.87 single 3UTR - - - rs6003249 uc002zvw.1 chr22 21394738 21394738 + 157 3splicesite -22.0 A/G AC AC->(A/G)C 9.31 single 3UTR - - - rs6011548 ENST00000370341 chr20 61136508 61136508 + 3 3splicesite 0.0 C/G/T GG GG->(G/C/A)G 9.01,2.19,10.79 single CDS - C20orf51 - rs6026635 ENST00000371052 chr20 56990625 56990625 + 6 3splicesite -11.0 G/T AC AC->(C/A)C 0.67,9.42 single CDS - CTSZ - rs60447626 ENST00000398903 chr8 144225205 144225205 + 4 3splicesite -20.0 C/T CG CG->C(G/A) 3.05,-4.90 single CDS - - - rs6075338 ENST00000262547 chr20 18341499 18341499 + 12 3splicesite -3.0 C/T GG GG->(G/A)G 9.01,4.71 single CDS - C20orf12 - rs6075338 ENST00000358866 chr20 18341499 18341499 + 8 3splicesite -3.0 C/T GG GG->(G/A)G 7.09,0.71 single CDS - - - rs6075338 uc002wqt.1 chr20 18341499 18341499 + 12 3splicesite -3.0 C/T GG GG->(G/A)G 6.01 single CDS - - - rs61032550 ENST00000313946 chr3 75566854 75566854 + 1 5splicesite 0.0 A/C GG GG->G(T/G) single CDS - - - rs61528920 ENST00000395679 chr8 120561752 120561752 + 3 5splicesite -24.0 A/G AC AC->A(T/C) single 3UTR - - - rs61729122 ENST00000399961 chr15 31322195 31322195 + 7 5splicesite -1.0 C/T GC GC->G(G/A) single CDS - - - rs61731042 ENST00000339532 chr18 22696208 22696208 + 3 3splicesite -19.0 C/T TT TT->(G/A)T 9.73,2.93 single CDS - AQP4 schizophrenia|16194264|GAD rs61734033 uc003lwj.1 chr5 156412163 156412163 + 4 5splicesite -17.0 C/T AC AC->(G/A)C single CDS PF01688.8 HAVCR1 {Atopy, resistance to}|-|OMIM || Allergic diseases, sucept., association with ?|blocked|HGMD || dermatitis and eczema|16940744|GAD || asthma|17117951|GAD || asthma|17570927|GAD || atopic asthma|12618867|GAD || asthma|15867855|GAD rs61739410 ENST00000338950 chr6 15641448 15641448 + 10 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 ENST00000344537 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 ENST00000397306 chr6 15641448 15641448 + 9 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 ENST00000397302 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 ENST00000355917 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 uc003nbm.1 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 uc003nbp.1 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS - DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61739410 uc003nbl.1 chr6 15641448 15641448 + 8 5splicesite 2.0 C/T GC GC->G(G/A) single CDS PF04440.7 DTNBP1 schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD rs61741922 ENST00000389003 chr17 23986257 23986257 + 17 3splicesite -4.0 A/G CG CG->C(T/C) -2.17,6.58 single CDS - - - rs61744456 ENST00000321188 chr1 20884266 20884266 + 9 3splicesite -36.0 A/G AA AA->(T/C)A 2.47 single CDS - - - rs61751261 ENST00000370225 chr1 94236004 94236004 - 48 5splicesite 3.0 A/G GC GC->(A/G)C single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61751261 ENST00000361520 chr1 94236004 94236004 - 48 5splicesite 3.0 A/G GC GC->(A/G)C single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61751261 uc001dqh.1 chr1 94236004 94236004 - 48 5splicesite 3.0 A/G GC GC->(A/G)C single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61753043 ENST00000370225 chr1 94239144 94239144 - 46 5splicesite 3.0 C/G GC GC->G(C/G) single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61753043 ENST00000361520 chr1 94239144 94239144 - 46 5splicesite 3.0 C/G GC GC->G(C/G) single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61753043 uc001dqh.1 chr1 94239144 94239144 - 46 5splicesite 3.0 C/G GC GC->G(C/G) single CDS - ABCA4 macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD rs61816394 ENST00000369334 chr1 144023142 144023142 + 14 3splicesite 2.0 C/G AC AC->A(C/G) -1.28,6.67 single 5UTR - - - rs61842449 ENST00000378211 chr10 15158524 15158524 + 5 3splicesite -10.0 G/T AA AA->A(C/A) 6.22 single 5UTR - ACBD7 - rs61868688 uc001lnp.1 chr10 135230331 135230331 + 3 3splicesite -18.0 G/T AC AC->A(C/A) 9.15,0.55 single 5UTR - - - rs61868697 uc001lnp.1 chr10 135230400 135230400 + 2 5splicesite -19.0 A/G CT CT->C(T/C) single 5UTR - - - rs61876746 ENST00000321883 chr11 817713 817713 + 1 5splicesite 0.0 A/T GA GA->G(A/T) single 5UTR - EFCAB4A - rs61876746 ENST00000327417 chr11 817713 817713 + 1 5splicesite 0.0 A/T GA GA->G(A/T) single 5UTR - EFCAB4A - rs61876746 uc001lru.1 chr11 817713 817713 + 1 5splicesite 0.0 A/T GA GA->G(A/T) single 5UTR - EFCAB4A - rs61986176 ENST00000379908 chr14 105240821 105240821 + 1 5splicesite -17.0 C/G TG TG->T(G/C) single CDS - - - rs61987836 ENST00000398929 chr14 64803741 64803741 + 2 3splicesite -34.0 C/T AA AA->A(G/A) 8.22,-0.15 single CDS - - - rs62026971 uc002bxn.1 chr15 100110362 100110362 + 4 5splicesite -6.0 A/C GC GC->G(A/C) single CDS - - - rs62034315 ENST00000328423 chr16 28414913 28414913 + 2 5splicesite -1.0 A/C GA GA->G(A/C) single CDS - - - rs62071307 ENST00000392992 chr17 56836951 56836951 + 6 3splicesite -37.0 C/G GC GC->G(C/G) 13.37,5.42 single 3UTR - - - rs62080098 uc002kla.1 chr18 899884 899884 + 5 3splicesite -12.0 C/T AT AT->A(C/T) -0.82,5.55 single 3UTR - ADCYAP1 schizophrenia; bipolar disorder|11515750|GAD || diabetes, type 2|11968092|GAD || multiple sclerosis|17175032|GAD rs62173315 ENST00000355513 chr2 170314802 170314802 + 2 3splicesite -18.0 A/G TA TA->(T/C)A 1.05,11.66 single CDS - - - rs62173315 ENST00000355513 chr2 170314802 170314802 + 1 5splicesite -31.0 A/G TA TA->(T/C)A single CDS - - - rs62182402 ENST00000392592 chr2 172449265 172449265 + 1 5splicesite 1.0 C/T AT AT->(G/A)T single CDS - - - rs62376983 ENST00000398996 chr5 108952694 108952694 + 2 5splicesite -5.0 C/T CT CT->C(C/T) single 3UTR - - - rs62444320 ENST00000315448 chr7 5078356 5078356 + 1 5splicesite -21.0 C/T TG TG->(C/T)G single 5UTR - - - rs62444320 uc003snt.1 chr7 5078356 5078356 + 1 5splicesite -21.0 C/T TG TG->(C/T)G single 5UTR - LOC389458 - rs62490668 uc003vgs.1 chr7 113304550 113304550 + 5 3splicesite -16.0 A/T TT TT->(T/A)T single 5UTR - PPP1R3A diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD rs62490669 uc003vgs.1 chr7 113304553 113304553 + 4 5splicesite -18.0 A/G TC TC->T(T/C) single 5UTR - PPP1R3A diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD rs62636615 ENST00000395545 chr17 19625007 19625007 + 24 3splicesite -5.0 A/G GG GG->(T/C)G 2.19,10.79 single CDS PF06293.5,PF07714.8,PF00069.16 - - rs6576212 uc001yrq.1 chr14 106231114 106231114 + 22 5splicesite -12.0 A/G TT TT->(T/C)T single 3UTR - - - rs6578185 uc003ywi.1 chr8 142527235 142527235 + 21 5splicesite -22.0 A/G TA TA->(T/C)A single CDS - FLJ43860 - rs6578193 uc003ywi.1 chr8 142574220 142574220 + 4 3splicesite 1.0 C/T AA AA->A(G/A) single CDS - FLJ43860 - rs6632884 ENST00000366382 chrX 16681467 16681467 + 1 5splicesite -18.0 A/T TA TA->(A/T)A single 3UTR - - - rs6632884 ENST00000366382 chrX 16681467 16681467 + 2 3splicesite -18.0 A/T TA TA->(A/T)A 2.91,11.66 single 3UTR - - - rs683733 ENST00000344342 chr18 6946738 6946738 + 8 5splicesite -28.0 A/C GG GG->G(T/G) single CDS PF00054.14,PF02210.15 LAMA1 - rs6960187 ENST00000378016 chr7 149161827 149161827 + 19 3splicesite 3.0 A/G GG GG->(A/G)G 8.17,-1.67 single 3UTR - SSPO - rs6977674 uc003ugz.1 chr7 77825646 77825646 + 6 5splicesite -26.0 C/T TG TG->(C/T)G single CDS - - - rs7105857 ENST00000398035 chr11 110675954 110675954 + 1 5splicesite -5.0 C/T GC GC->G(C/T) single 5UTR - - - rs7105857 uc001plf.1 chr11 110675954 110675954 + 1 5splicesite -5.0 C/T GC GC->G(C/T) single 5UTR - - - rs7145957 uc001yrq.1 chr14 105562953 105562953 + 1293 3splicesite -13.0 G/T AA AA->(C/A)A 10.62 single 3UTR - - - rs7146961 uc001yrq.1 chr14 106064843 106064843 + 106 5splicesite -29.0 C/T GG GG->(G/A)G single 3UTR - - - rs7152544 uc001yrq.1 chr14 105512441 105512441 + 1528 3splicesite -32.0 C/T TA TA->T(G/A) 10.62,1.87 single 3UTR - - - rs7154767 uc001yrq.1 chr14 105752710 105752710 + 567 3splicesite -15.0 A/G TA TA->(T/C)A 10.62,6.33 single 3UTR - - - rs7160187 uc001yrq.1 chr14 105547561 105547561 + 1366 5splicesite -28.0 A/G TC TC->(T/C)C single 3UTR - - - rs7226242 ENST00000283936 chr17 65608503 65608503 + 2 5splicesite 2.0 A/G AT AT->(A/G)T single 5UTR - - - rs7226242 ENST00000392671 chr17 65608503 65608503 + 2 5splicesite 2.0 A/G AT AT->(A/G)T single 5UTR - KCNJ16 - rs7226242 uc002jin.1 chr17 65608503 65608503 + 2 5splicesite 2.0 A/G AT AT->(A/G)T single 5UTR - KCNJ16 - rs7226242 uc002jio.1 chr17 65608503 65608503 + 2 5splicesite 2.0 A/G AT AT->(A/G)T single 5UTR - KCNJ16 - rs7292358 uc002zvw.1 chr22 21561769 21561769 + 299 5splicesite -23.0 C/T CT CT->(C/T)T single 3UTR - - - rs7439293 ENST00000398768 chr4 169914061 169914061 + 4 5splicesite -26.0 A/G TG TG->T(A/G) single 3UTR - - - rs7439293 ENST00000398768 chr4 169914061 169914061 + 5 3splicesite -12.0 A/G TG TG->T(A/G) -0.26,8.49 single 3UTR - - - rs747250 ENST00000318117 chr11 129776888 129776888 + 9 3splicesite 1.0 G/T AT AT->A(G/T) 10.67,7.39 single CDS - - - rs7539396 ENST00000327057 chr1 54273048 54273048 + 1 5splicesite -36.0 A/G TC TC->T(T/C) single 3UTR - - - rs7654611 ENST00000399073 chr4 120547752 120547752 + 3 3splicesite -24.0 A/G TG TG->(T/C)G 0.39,9.14 single 3UTR - - - rs7654738 ENST00000337500 chr4 77006697 77006697 + 15 3splicesite -1.0 C/T AA AA->A(G/A) -0.56 single CDS - - - rs7720935 ENST00000377087 chr5 177311565 177311565 + 3 5splicesite 0.0 C/T GC GC->G(C/T) single CDS - - - rs7720935 uc003mie.1 chr5 177311565 177311565 + 1 5splicesite 0.0 C/T GC GC->G(C/T) single 3UTR - - - rs7726569 ENST00000296803 chr5 41113201 41113201 + 1 5splicesite -8.0 C/G CA CA->(G/C)A single CDS - - - rs774774 uc003dyp.1 chr3 113243461 113243461 + 2 3splicesite -14.0 A/G AA AA->A(A/G) 6.54 single 5UTR - TMPRSS7 - rs7814198 uc003ydr.1 chr8 87310963 87310963 + 1 5splicesite -1.0 A/G GC GC->G(T/C) single CDS PF00324.12 SLC7A13 - rs8009554 uc001yrq.1 chr14 105851862 105851862 + 261 3splicesite -12.0 A/C GT GT->G(T/G) -2.04,9.82 single 3UTR - - - rs8013561 uc001yrq.1 chr14 105446001 105446001 + 2059 5splicesite -26.0 G/T AC AC->A(C/A) single 3UTR - - - rs8043581 ENST00000397698 chr16 482394 482394 + 1 5splicesite -31.0 C/T TC TC->(C/T)C single 3UTR - - - rs8065203 ENST00000392453 chr17 74200174 74200174 + 10 3splicesite -4.0 A/C TG TG->T(T/G) 8.91,0.16 single CDS - PSCD1 - rs8100936 ENST00000395947 chr19 641902 641902 + 1 5splicesite -20.0 C/T TC TC->(C/T)C single 3UTR - - - rs8100936 ENST00000395947 chr19 641902 641902 + 2 3splicesite -25.0 C/T TC TC->(C/T)C -1.09,7.66 single 3UTR - - - rs8100996 ENST00000359014 chr19 58037226 58037226 + 2 3splicesite -6.0 A/T AA AA->A(T/A) -5.65,-0.97 single 3UTR - ZNF468 - rs8107859 uc002ngx.1 chr19 17509350 17509350 + 6 5splicesite -34.0 C/T TA TA->(C/T)A single CDS - FAM129C - rs8109273 ENST00000397759 chr19 12085172 12085172 + 2 5splicesite -1.0 C/T AT AT->A(C/T) single CDS PF00096.17 - - rs885890 uc001yrq.1 chr14 105607790 105607790 - 1119 5splicesite -28.0 C/T TT TT->T(C/T) single 3UTR - - - rs888835 uc002pgh.1 chr19 52466831 52466831 - 13 3splicesite -7.0 A/G GC GC->G(T/C) 13.32,4.72 single 3UTR - CCDC9 - rs907593 uc002bca.1 chr15 74984008 74984008 + 2 5splicesite 2.0 A/G GC GC->G(T/C) single 3UTR - ZNF291 - rs9259839 uc003nog.1 chr6 30003908 30003908 + 3 5splicesite 1.0 C/G GC GC->(G/C)C single 3UTR - - - rs9264742 ENST00000399193 chr6 31352595 31352595 + 1 5splicesite -1.0 C/T AT AT->A(C/T) single 3UTR - - - rs9333378 ENST00000367883 chr1 163868090 163868090 + 2 3splicesite 1.0 A/G GG GG->(A/G)G 10.55,1.80 single 5UTR - - - rs9333378 ENST00000367885 chr1 163868090 163868090 + 2 3splicesite 1.0 A/G GG GG->(A/G)G 10.55,1.80 single 5UTR - - - rs9468483 ENST00000377170 chr6 29171214 29171214 + 1 5splicesite -1.0 C/T CT CT->(C/T)T single CDS - OR2J1 - rs9607632 ENST00000328995 chr22 38041671 38041671 + 4 3splicesite -10.0 C/G GG GG->(G/C)G 6.13,-2.21 single CDS - RPL3 - rs9607798 ENST00000366395 chr22 40089933 40089933 + 2 3splicesite -24.0 A/G TT TT->(T/C)T 2.91,2.64 single 3UTR - - - rs9623962 uc002zvw.1 chr22 21561130 21561130 + 298 5splicesite -35.0 A/G AG AG->A(A/G) single 3UTR - - - rs9624069 ENST00000398512 chr22 21933078 21933078 + 1 5splicesite -15.0 C/T CT CT->(C/T)T single CDS - - - rs9668818 uc001uln.1 chr12 132124470 132124470 + 1 5splicesite -10.0 C/T CC CC->(C/T)C single 5UTR - ZNF84 - rs9671626 uc001yrq.1 chr14 105434793 105434793 + 2223 3splicesite -14.0 C/T GG GG->(G/A)G 1.07,-11.41 single 3UTR - - - rs9699928 ENST00000358829 chr1 17533473 17533473 + 5 5splicesite -28.0 C/T CT CT->(C/T)T single CDS - - - rs9775264 ENST00000388932 chr9 139259578 139259578 + 3 5splicesite -1.0 A/G GC GC->G(T/C) single CDS - - - rs9775264 ENST00000344774 chr9 139259578 139259578 + 3 5splicesite -1.0 A/G GC GC->G(T/C) single CDS - - - rs9775264 uc004cmi.1 chr9 139259578 139259578 + 3 5splicesite -1.0 A/G GC GC->G(T/C) single CDS - LOC401565 - rs9795469 uc001ogk.1 chr11 65469783 65469783 + 1 5splicesite -15.0 C/T TG TG->(C/T)G single CDS - TSGA10IP - rs9959632 ENST00000400334 chr18 57956512 57956512 + 13 3splicesite 1.0 C/T AA AA->A(G/A) 9.85 single CDS PF04987.5 PIGN - rs9959632 ENST00000357637 chr18 57956512 57956512 + 14 3splicesite 1.0 C/T AA AA->A(G/A) 4.42,6.29 single CDS PF04987.5 PIGN -
