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rs199473653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473653(A;A)
Make rs199473653(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175284
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473653
dbSNP (classic)rs199473653
ClinGenrs199473653
ebirs199473653
HLIrs199473653
Exacrs199473653
Gnomadrs199473653
Varsomers199473653
LitVarrs199473653
Maprs199473653
PheGenIrs199473653
Biobankrs199473653
1000 genomesrs199473653
hgdprs199473653
ensemblrs199473653
geneviewrs199473653
scholarrs199473653
googlers199473653
pharmgkbrs199473653
gwascentralrs199473653
openSNPrs199473653
23andMers199473653
SNPshotrs199473653
SNPdbers199473653
MSV3drs199473653
GWAS Ctlgrs199473653
Max Magnitude0
ClinVar
Risk rs199473653(A;A)
Alt rs199473653(A;A)
Reference Rs199473653(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68171425G>A
CLNSRC ClinVar
CLNACC RCV000058306.3, RCV000466653.1,