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rs199472996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472996(G;T)
Make rs199472996(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950212
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472996
ebirs199472996
HLIrs199472996
Exacrs199472996
Varsomers199472996
Maprs199472996
PheGenIrs199472996
hapmaprs199472996
1000 genomesrs199472996
hgdprs199472996
ensemblrs199472996
gopubmedrs199472996
geneviewrs199472996
scholarrs199472996
googlers199472996
pharmgkbrs199472996
gwascentralrs199472996
openSNPrs199472996
23andMers199472996
23andMe allrs199472996
SNP Nexus

SNPshotrs199472996
SNPdbers199472996
MSV3drs199472996
GWAS Ctlgrs199472996
Max Magnitude0
ClinVar
Risk rs199472996(C,T;C,T)
Alt rs199472996(C,T;C,T)
Reference rs199472996(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.150647300C>A; NC_000007.13:g.150647300C>G
CLNSRC ClinVar
CLNACC RCV000058110.2, RCV000058109.2,