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rs199472943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472943(G;T)
Make rs199472943(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951559
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472943
ebirs199472943
HLIrs199472943
Exacrs199472943
Varsomers199472943
Maprs199472943
PheGenIrs199472943
hapmaprs199472943
1000 genomesrs199472943
hgdprs199472943
ensemblrs199472943
gopubmedrs199472943
geneviewrs199472943
scholarrs199472943
googlers199472943
pharmgkbrs199472943
gwascentralrs199472943
openSNPrs199472943
23andMers199472943
23andMe allrs199472943
SNP Nexus

SNPshotrs199472943
SNPdbers199472943
MSV3drs199472943
GWAS Ctlgrs199472943
Max Magnitude0
ClinVar
Risk rs199472943(T;T)
Alt rs199472943(T;T)
Reference rs199472943(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.150648647C>A
CLNSRC ClinVar
CLNACC RCV000058008.2,