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rs199473389

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473389(C;T)
Make rs199473389(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175973
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473389
dbSNP (classic)rs199473389
ClinGenrs199473389
ebirs199473389
HLIrs199473389
Exacrs199473389
Gnomadrs199473389
Varsomers199473389
LitVarrs199473389
Maprs199473389
PheGenIrs199473389
Biobankrs199473389
1000 genomesrs199473389
hgdprs199473389
ensemblrs199473389
geneviewrs199473389
scholarrs199473389
googlers199473389
pharmgkbrs199473389
gwascentralrs199473389
openSNPrs199473389
23andMers199473389
SNPshotrs199473389
SNPdbers199473389
MSV3drs199473389
GWAS Ctlgrs199473389
Max Magnitude0
ClinVar
Risk rs199473389(T;T)
Alt rs199473389(T;T)
Reference Rs199473389(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000017.10:g.68172114C>T
CLNSRC ClinVar
CLNACC RCV000058339.3, RCV000443262.1,