PKD1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | polycystic kidney disease 1 (autosomal dominant) |
| EntrezGene | 5310 |
| PheGenI | 5310 |
| VariationViewer | 5310 |
| ClinVar | PKD1 |
| GeneCards | PKD1 |
| dbSNP | 5310 |
| Diseases | PKD1 |
| SADR | 5310 |
| HugeNav | 5310 |
| wikipedia | PKD1 |
| PKD1 | |
| gopubmed | PKD1 |
| EVS | PKD1 |
| HEFalMp | PKD1 |
| MyGene2 | PKD1 |
| 23andMe | PKD1 |
| UniProt | P98161 |
| Ensembl | ENSG00000008710 |
| OMIM | 601313 |
| # SNPs | 90 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057516041 | 0 | 2,094,127 | |
| rs1057516202 | 0 | 2,100,027 | |
| rs1057516206 | 5 | 2,111,624 | |
| rs1057518001 | 0 | 2,116,916 | |
| rs1057518103 | 0 | 2,088,445 | |
| rs1057518104 | 0 | 2,092,483 | |
| rs1057518604 | 5 | 2,103,688 | |
| rs1057518783 | 0 | 2,110,081 | |
| rs1057518856 | 0 | 2,102,397 | |
| rs1057518897 | 5 | 2,103,746 | |
| rs1057518899 | 0 | 2,111,647 | |
| rs1057518923 | 0 | 2,115,395 | |
| rs1057518959 | 0 | 2,091,794 | |
| rs1057518976 | 0 | 2,111,382 | |
| rs1060499676 | 0 | 2,088,234 | |
| rs1060499699 | 0 | 2,117,579 | |
| rs1060499702 | 5 | 2,108,743 | |
| rs1060499704 | 0 | 2,100,396 | |
| rs1060499718 | 5 | 2,090,418 | |
| rs1064792923 | 0 | 2,088,467 | |
| rs1064793762 | 5 | 2,108,254 | |
| rs1064793839 | 0 | 2,088,280 | |
| rs1064794206 | 0 | 2,097,227 | |
| rs1064794207 | 5 | 2,116,564 | |
| rs1064797205 | 0 | 2,089,956 | |
| rs1085307666 | 0 | 2,088,578 | |
| rs137854218 | 0 | 2,088,293 | |
| rs137854219 | 6.3 | 2,088,285 | |
| rs137854225 | 0 | 2,088,304 | |
| rs137854317 | 0 | 2,088,326 | |
| rs137854397 | 0 | 2,088,318 | |
| rs148812376 | 5 | 2,099,955 | |
| rs151257298 | 5 | 2,106,587 | |
| rs1616940 | 5 | 2,114,843 | |
| rs199476094 | 5 | 2,090,688 | |
| rs199476095 | 5 | 2,089,957 | Polycystic Kidney disease |
| rs199476096 | 5 | 2,091,806 | Polycystic Kidney disease |
| rs199476097 | 5 | 2,090,468 | |
| rs199476098 | 5 | 2,091,861 | Polycystic Kidney disease |
| rs199476099 | 5 | 2,118,021 | Polycystic Kidney disease |
| rs199476100 | 5 | 2,114,489 | Polycystic Kidney disease |
| rs199476101 | 5 | 2,109,403 | Polycystic Kidney disease |
| rs199476102 | 5 | 2,090,309 | Polycystic Kidney disease |
| rs200520583 | 5 | 2,102,857 | |
| rs2432403 | 5 | 2,106,599 | |
| rs3087631 | 0 | 2,089,126 | |
| rs34197769 | 0 | 2,094,175 | |
| rs369825780 | 5 | 2,092,181 | |
| rs40433 | 0 | 2,114,807 | |
| rs45472701 | 6.3 | 2,088,236 | |
| ... further results | |||
The PKD1 gene encodes the polycystin-1 glycoprotein. This protein plays a role in renal tubular development, and mutations in PKD1 have been associated with autosomal dominant Polycystic Kidney disease.Wikipedia
Note that some DNA technologies assessing the PKD1 gene may be confounded by the presence of a highly homologous pseudogene.[PMID 27228465]
