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rs199472939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472939(C;T)
Make rs199472939(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951580
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472939
ebirs199472939
HLIrs199472939
Exacrs199472939
Varsomers199472939
Maprs199472939
PheGenIrs199472939
hapmaprs199472939
1000 genomesrs199472939
hgdprs199472939
ensemblrs199472939
gopubmedrs199472939
geneviewrs199472939
scholarrs199472939
googlers199472939
pharmgkbrs199472939
gwascentralrs199472939
openSNPrs199472939
23andMers199472939
23andMe allrs199472939
SNP Nexus

SNPshotrs199472939
SNPdbers199472939
MSV3drs199472939
GWAS Ctlgrs199472939
Max Magnitude0
ClinVar
Risk rs199472939(T;T)
Alt rs199472939(T;T)
Reference rs199472939(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648668G>A
CLNSRC ClinVar
CLNACC RCV000057999.2,