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rs199472991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472991(G;T)
Make rs199472991(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950309
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472991
ebirs199472991
HLIrs199472991
Exacrs199472991
Varsomers199472991
Maprs199472991
PheGenIrs199472991
hapmaprs199472991
1000 genomesrs199472991
hgdprs199472991
ensemblrs199472991
gopubmedrs199472991
geneviewrs199472991
scholarrs199472991
googlers199472991
pharmgkbrs199472991
gwascentralrs199472991
openSNPrs199472991
23andMers199472991
23andMe allrs199472991
SNP Nexus

SNPshotrs199472991
SNPdbers199472991
MSV3drs199472991
GWAS Ctlgrs199472991
Max Magnitude0
ClinVar
Risk rs199472991(T;T)
Alt rs199472991(T;T)
Reference rs199472991(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150647397C>A
CLNSRC ClinVar
CLNACC RCV000058101.2,