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rs199472831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472831(C;C)
Make rs199472831(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974932
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472831
ebirs199472831
HLIrs199472831
Exacrs199472831
Varsomers199472831
Maprs199472831
PheGenIrs199472831
hapmaprs199472831
1000 genomesrs199472831
hgdprs199472831
ensemblrs199472831
gopubmedrs199472831
geneviewrs199472831
scholarrs199472831
googlers199472831
pharmgkbrs199472831
gwascentralrs199472831
openSNPrs199472831
23andMers199472831
23andMe allrs199472831
SNP Nexus

SNPshotrs199472831
SNPdbers199472831
MSV3drs199472831
GWAS Ctlgrs199472831
Max Magnitude0
ClinVar
Risk rs199472831(C;C)
Alt rs199472831(C;C)
Reference rs199472831(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.150672020A>G
CLNSRC ClinVar
CLNACC RCV000058265.2,