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rs199472982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472982(C;T)
Make rs199472982(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951007
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472982
ebirs199472982
HLIrs199472982
Exacrs199472982
Varsomers199472982
Maprs199472982
PheGenIrs199472982
hapmaprs199472982
1000 genomesrs199472982
hgdprs199472982
ensemblrs199472982
gopubmedrs199472982
geneviewrs199472982
scholarrs199472982
googlers199472982
pharmgkbrs199472982
gwascentralrs199472982
openSNPrs199472982
23andMers199472982
23andMe allrs199472982
SNP Nexus

SNPshotrs199472982
SNPdbers199472982
MSV3drs199472982
GWAS Ctlgrs199472982
Max Magnitude0
ClinVar
Risk rs199472982(T;T)
Alt rs199472982(T;T)
Reference rs199472982(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648095G>A
CLNSRC ClinVar
CLNACC RCV000058077.2,