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

rs199472945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472945(C;T)
Make rs199472945(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951550
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472945
ebirs199472945
HLIrs199472945
Exacrs199472945
Varsomers199472945
Maprs199472945
PheGenIrs199472945
hapmaprs199472945
1000 genomesrs199472945
hgdprs199472945
ensemblrs199472945
gopubmedrs199472945
geneviewrs199472945
scholarrs199472945
googlers199472945
pharmgkbrs199472945
gwascentralrs199472945
openSNPrs199472945
23andMers199472945
23andMe allrs199472945
SNP Nexus

SNPshotrs199472945
SNPdbers199472945
MSV3drs199472945
GWAS Ctlgrs199472945
Max Magnitude0
ClinVar
Risk rs199472945(G,T;G,T)
Alt rs199472945(G,T;G,T)
Reference rs199472945(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648638G>A; NC_000007.13:g.150648638G>C
CLNSRC ClinVar
CLNACC RCV000058012.2, RCV000058011.2,