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rs199472931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472931(A;A)
Make rs199472931(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951612
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472931
ebirs199472931
HLIrs199472931
Exacrs199472931
Varsomers199472931
Maprs199472931
PheGenIrs199472931
hapmaprs199472931
1000 genomesrs199472931
hgdprs199472931
ensemblrs199472931
gopubmedrs199472931
geneviewrs199472931
scholarrs199472931
googlers199472931
pharmgkbrs199472931
gwascentralrs199472931
openSNPrs199472931
23andMers199472931
23andMe allrs199472931
SNP Nexus

SNPshotrs199472931
SNPdbers199472931
MSV3drs199472931
GWAS Ctlgrs199472931
Max Magnitude0
ClinVar
Risk rs199472931(A;A)
Alt rs199472931(A;A)
Reference rs199472931(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.150648700C>T
CLNSRC ClinVar
CLNACC RCV000057987.2,