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

rs199472793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472793(C;T)
Make rs199472793(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2775966
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472793
ebirs199472793
HLIrs199472793
Exacrs199472793
Varsomers199472793
Maprs199472793
PheGenIrs199472793
hapmaprs199472793
1000 genomesrs199472793
hgdprs199472793
ensemblrs199472793
gopubmedrs199472793
geneviewrs199472793
scholarrs199472793
googlers199472793
pharmgkbrs199472793
gwascentralrs199472793
openSNPrs199472793
23andMers199472793
23andMe allrs199472793
SNP Nexus

SNPshotrs199472793
SNPdbers199472793
MSV3drs199472793
GWAS Ctlgrs199472793
Max Magnitude0
ClinVar
Risk rs199472793(T;T)
Alt rs199472793(T;T)
Reference rs199472793(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2797196C>T
CLNSRC Sir Ganga Ram Hospital
CLNACC RCV000057603.2, RCV000234802.1,