Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473538(C;T)
Make rs199473538(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948981
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473538
ebirs199473538
HLIrs199473538
Exacrs199473538
Varsomers199473538
Maprs199473538
PheGenIrs199473538
hapmaprs199473538
1000 genomesrs199473538
hgdprs199473538
ensemblrs199473538
gopubmedrs199473538
geneviewrs199473538
scholarrs199473538
googlers199473538
pharmgkbrs199473538
gwascentralrs199473538
openSNPrs199473538
23andMers199473538
23andMe allrs199473538
SNP Nexus

SNPshotrs199473538
SNPdbers199473538
MSV3drs199473538
GWAS Ctlgrs199473538
Max Magnitude0
ClinVar
Risk rs199473538(T;T)
Alt rs199473538(T;T)
Reference rs199473538(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150646069G>A
CLNSRC ClinVar
CLNACC RCV000058126.2, RCV000181867.2, RCV000234770.1,