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rs199472851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472851(G;G)
Make rs199472851(G;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974761
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472851
ebirs199472851
HLIrs199472851
Exacrs199472851
Varsomers199472851
Maprs199472851
PheGenIrs199472851
hapmaprs199472851
1000 genomesrs199472851
hgdprs199472851
ensemblrs199472851
gopubmedrs199472851
geneviewrs199472851
scholarrs199472851
googlers199472851
pharmgkbrs199472851
gwascentralrs199472851
openSNPrs199472851
23andMers199472851
23andMe allrs199472851
SNP Nexus

SNPshotrs199472851
SNPdbers199472851
MSV3drs199472851
GWAS Ctlgrs199472851
Max Magnitude0
ClinVar
Risk rs199472851(C,G;C,G)
Alt rs199472851(C,G;C,G)
Reference rs199472851(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.150671849A>C; NC_000007.13:g.150671849A>G
CLNSRC ClinVar
CLNACC RCV000058138.2, RCV000058137.2,