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rs1060502175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502175(-;-)
Make rs1060502175(-;A)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position100402799
GenePCDH19
is asnp
is mentioned by
dbSNPrs1060502175
dbSNP (classic)rs1060502175
ClinGenrs1060502175
ebirs1060502175
HLIrs1060502175
Exacrs1060502175
Gnomadrs1060502175
Varsomers1060502175
LitVarrs1060502175
Maprs1060502175
PheGenIrs1060502175
Biobankrs1060502175
1000 genomesrs1060502175
hgdprs1060502175
ensemblrs1060502175
geneviewrs1060502175
scholarrs1060502175
googlers1060502175
pharmgkbrs1060502175
gwascentralrs1060502175
openSNPrs1060502175
23andMers1060502175
SNPshotrs1060502175
SNPdbers1060502175
MSV3drs1060502175
GWAS Ctlgrs1060502175
Max Magnitude0
ClinVar
Risk rs1060502175(-;-)
Alt rs1060502175(-;-)
Reference Rs1060502175(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 9
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9
Reversed 1
HGVS NC_000023.10:g.99657797delT
CLNSRC
CLNACC RCV000475650.1,