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rs199472936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472936(G;T)
Make rs199472936(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951592
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472936
ebirs199472936
HLIrs199472936
Exacrs199472936
Varsomers199472936
Maprs199472936
PheGenIrs199472936
hapmaprs199472936
1000 genomesrs199472936
hgdprs199472936
ensemblrs199472936
gopubmedrs199472936
geneviewrs199472936
scholarrs199472936
googlers199472936
pharmgkbrs199472936
gwascentralrs199472936
openSNPrs199472936
23andMers199472936
23andMe allrs199472936
SNP Nexus

SNPshotrs199472936
SNPdbers199472936
MSV3drs199472936
GWAS Ctlgrs199472936
Max Magnitude0
ClinVar
Risk rs199472936(A,T;A,T)
Alt rs199472936(A,T;A,T)
Reference rs199472936(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648680C>A; NC_000007.13:g.150648680C>T
CLNSRC ClinVar
CLNACC RCV000057996.2, RCV000057995.2, RCV000208241.1, RCV000233419.1,