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rs199472950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472950(C;T)
Make rs199472950(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951525
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472950
ebirs199472950
HLIrs199472950
Exacrs199472950
Varsomers199472950
Maprs199472950
PheGenIrs199472950
hapmaprs199472950
1000 genomesrs199472950
hgdprs199472950
ensemblrs199472950
gopubmedrs199472950
geneviewrs199472950
scholarrs199472950
googlers199472950
pharmgkbrs199472950
gwascentralrs199472950
openSNPrs199472950
23andMers199472950
23andMe allrs199472950
SNP Nexus

SNPshotrs199472950
SNPdbers199472950
MSV3drs199472950
GWAS Ctlgrs199472950
Max Magnitude0
ClinVar
Risk rs199472950(T;T)
Alt rs199472950(T;T)
Reference rs199472950(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.150648613G>A
CLNSRC ClinVar
CLNACC RCV000058020.2,