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rs786205812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205812(G;G)
Make rs786205812(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position70175265
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs786205812
dbSNP (classic)rs786205812
ClinGenrs786205812
ebirs786205812
HLIrs786205812
Exacrs786205812
Gnomadrs786205812
Varsomers786205812
LitVarrs786205812
Maprs786205812
PheGenIrs786205812
Biobankrs786205812
1000 genomesrs786205812
hgdprs786205812
ensemblrs786205812
geneviewrs786205812
scholarrs786205812
googlers786205812
pharmgkbrs786205812
gwascentralrs786205812
openSNPrs786205812
23andMers786205812
SNPshotrs786205812
SNPdbers786205812
MSV3drs786205812
GWAS Ctlgrs786205812
Max Magnitude0
ClinVar
Risk rs786205812(G;G)
Alt rs786205812(G;G)
Reference Rs786205812(T;T)
Significance Probable-Pathogenic
Disease not provided Andersen Tawil syndrome Short QT syndrome 3
Variation info
Gene KCNJ2
CLNDBN not provided Andersen Tawil syndrome Short QT syndrome 3
Reversed 0
HGVS NC_000017.10:g.68171406T>G
CLNSRC
CLNACC RCV000170974.4, RCV000471851.1,