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rs199473369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473369(A;A)
Make rs199473369(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175250
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473369
dbSNP (classic)rs199473369
ClinGenrs199473369
ebirs199473369
HLIrs199473369
Exacrs199473369
Gnomadrs199473369
Varsomers199473369
LitVarrs199473369
Maprs199473369
PheGenIrs199473369
Biobankrs199473369
1000 genomesrs199473369
hgdprs199473369
ensemblrs199473369
geneviewrs199473369
scholarrs199473369
googlers199473369
pharmgkbrs199473369
gwascentralrs199473369
openSNPrs199473369
23andMers199473369
SNPshotrs199473369
SNPdbers199473369
MSV3drs199473369
GWAS Ctlgrs199473369
Max Magnitude0
ClinVar
Risk rs199473369(A;A) rs199473369(C;C)
Alt rs199473369(A;A) rs199473369(C;C)
Reference Rs199473369(G;G)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome not provided Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68171391G>A; NC_000017.10:g.68171391G>C
CLNSRC ClinVar
CLNACC RCV000058297.3, RCV000413768.1, RCV000208360.1,