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rs199472938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472938(C;T)
Make rs199472938(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951579
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472938
ebirs199472938
HLIrs199472938
Exacrs199472938
Varsomers199472938
Maprs199472938
PheGenIrs199472938
hapmaprs199472938
1000 genomesrs199472938
hgdprs199472938
ensemblrs199472938
gopubmedrs199472938
geneviewrs199472938
scholarrs199472938
googlers199472938
pharmgkbrs199472938
gwascentralrs199472938
openSNPrs199472938
23andMers199472938
23andMe allrs199472938
SNP Nexus

SNPshotrs199472938
SNPdbers199472938
MSV3drs199472938
GWAS Ctlgrs199472938
Max Magnitude0
ClinVar
Risk rs199472938(T;T)
Alt rs199472938(T;T)
Reference rs199472938(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.150648667G>A
CLNSRC ClinVar
CLNACC RCV000058000.2,