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

rs199472957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472957(A;G)
Make rs199472957(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951507
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472957
ebirs199472957
HLIrs199472957
Exacrs199472957
Varsomers199472957
Maprs199472957
PheGenIrs199472957
hapmaprs199472957
1000 genomesrs199472957
hgdprs199472957
ensemblrs199472957
gopubmedrs199472957
geneviewrs199472957
scholarrs199472957
googlers199472957
pharmgkbrs199472957
gwascentralrs199472957
openSNPrs199472957
23andMers199472957
23andMe allrs199472957
SNP Nexus

SNPshotrs199472957
SNPdbers199472957
MSV3drs199472957
GWAS Ctlgrs199472957
Max Magnitude0
ClinVar
Risk rs199472957(C,G,T;C,G,T)
Alt rs199472957(C,G,T;C,G,T)
Reference rs199472957(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648595T>A; NC_000007.13:g.150648595T>C; NC_000007.13:g.150648595T>G
CLNSRC ClinVar
CLNACC RCV000058035.2, RCV000058034.2, RCV000181823.2, RCV000058033.2,