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

rs199472729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472729(C;C)
Make rs199472729(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572889
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472729
ebirs199472729
HLIrs199472729
Exacrs199472729
Varsomers199472729
Maprs199472729
PheGenIrs199472729
hapmaprs199472729
1000 genomesrs199472729
hgdprs199472729
ensemblrs199472729
gopubmedrs199472729
geneviewrs199472729
scholarrs199472729
googlers199472729
pharmgkbrs199472729
gwascentralrs199472729
openSNPrs199472729
23andMers199472729
23andMe allrs199472729
SNP Nexus

SNPshotrs199472729
SNPdbers199472729
MSV3drs199472729
GWAS Ctlgrs199472729
Max Magnitude0
ClinVar
Risk rs199472729(C;C)
Alt rs199472729(C;C)
Reference rs199472729(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594119T>C
CLNSRC ClinVar
CLNACC RCV000046137.2, RCV000057772.2,