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rs199473041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473041(C;T)
Make rs199473041(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150946905
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473041
ebirs199473041
HLIrs199473041
Exacrs199473041
Varsomers199473041
Maprs199473041
PheGenIrs199473041
hapmaprs199473041
1000 genomesrs199473041
hgdprs199473041
ensemblrs199473041
gopubmedrs199473041
geneviewrs199473041
scholarrs199473041
googlers199473041
pharmgkbrs199473041
gwascentralrs199473041
openSNPrs199473041
23andMers199473041
23andMe allrs199473041
SNP Nexus

SNPshotrs199473041
SNPdbers199473041
MSV3drs199473041
GWAS Ctlgrs199473041
Max Magnitude0
ClinVar
Risk rs199473041(T;T)
Alt rs199473041(T;T)
Reference rs199473041(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150643993G>A
CLNSRC ClinVar
CLNACC RCV000058216.2,