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rs199472993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472993(G;T)
Make rs199472993(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950267
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472993
ebirs199472993
HLIrs199472993
Exacrs199472993
Varsomers199472993
Maprs199472993
PheGenIrs199472993
hapmaprs199472993
1000 genomesrs199472993
hgdprs199472993
ensemblrs199472993
gopubmedrs199472993
geneviewrs199472993
scholarrs199472993
googlers199472993
pharmgkbrs199472993
gwascentralrs199472993
openSNPrs199472993
23andMers199472993
23andMe allrs199472993
SNP Nexus

SNPshotrs199472993
SNPdbers199472993
MSV3drs199472993
GWAS Ctlgrs199472993
Max Magnitude0
ClinVar
Risk rs199472993(T;T)
Alt rs199472993(T;T)
Reference rs199472993(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.150647355C>A
CLNSRC ClinVar
CLNACC RCV000058104.2,