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

rs199472955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472955(C;C)
Make rs199472955(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951510
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472955
ebirs199472955
HLIrs199472955
Exacrs199472955
Varsomers199472955
Maprs199472955
PheGenIrs199472955
hapmaprs199472955
1000 genomesrs199472955
hgdprs199472955
ensemblrs199472955
gopubmedrs199472955
geneviewrs199472955
scholarrs199472955
googlers199472955
pharmgkbrs199472955
gwascentralrs199472955
openSNPrs199472955
23andMers199472955
23andMe allrs199472955
SNP Nexus

SNPshotrs199472955
SNPdbers199472955
MSV3drs199472955
GWAS Ctlgrs199472955
Max Magnitude0
ClinVar
Risk rs199472955(C,T;C,T)
Alt rs199472955(C,T;C,T)
Reference rs199472955(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.150648598C>A; NC_000007.13:g.150648598C>G
CLNSRC ClinVar
CLNACC RCV000058031.2, RCV000058030.2,