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rs199472954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472954(A;A)
Make rs199472954(A;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951514
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472954
ebirs199472954
HLIrs199472954
Exacrs199472954
Varsomers199472954
Maprs199472954
PheGenIrs199472954
hapmaprs199472954
1000 genomesrs199472954
hgdprs199472954
ensemblrs199472954
gopubmedrs199472954
geneviewrs199472954
scholarrs199472954
googlers199472954
pharmgkbrs199472954
gwascentralrs199472954
openSNPrs199472954
23andMers199472954
23andMe allrs199472954
SNP Nexus

SNPshotrs199472954
SNPdbers199472954
MSV3drs199472954
GWAS Ctlgrs199472954
Max Magnitude0
ClinVar
Risk rs199472954(A,C;A,C)
Alt rs199472954(A,C;A,C)
Reference rs199472954(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648602A>G; NC_000007.13:g.150648602A>T
CLNSRC ClinVar
CLNACC RCV000058027.2, RCV000058026.2,