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rs199472994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472994(C;C)
Make rs199472994(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950257
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472994
ebirs199472994
HLIrs199472994
Exacrs199472994
Varsomers199472994
Maprs199472994
PheGenIrs199472994
hapmaprs199472994
1000 genomesrs199472994
hgdprs199472994
ensemblrs199472994
gopubmedrs199472994
geneviewrs199472994
scholarrs199472994
googlers199472994
pharmgkbrs199472994
gwascentralrs199472994
openSNPrs199472994
23andMers199472994
23andMe allrs199472994
SNP Nexus

SNPshotrs199472994
SNPdbers199472994
MSV3drs199472994
GWAS Ctlgrs199472994
Max Magnitude0
ClinVar
Risk rs199472994(C;C)
Alt rs199472994(C;C)
Reference rs199472994(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.150647345A>G
CLNSRC ClinVar
CLNACC RCV000058105.2,