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rs199472744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472744(A;A)
Make rs199472744(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583442
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472744
ebirs199472744
HLIrs199472744
Exacrs199472744
Varsomers199472744
Maprs199472744
PheGenIrs199472744
hapmaprs199472744
1000 genomesrs199472744
hgdprs199472744
ensemblrs199472744
gopubmedrs199472744
geneviewrs199472744
scholarrs199472744
googlers199472744
pharmgkbrs199472744
gwascentralrs199472744
openSNPrs199472744
23andMers199472744
23andMe allrs199472744
SNP Nexus

SNPshotrs199472744
SNPdbers199472744
MSV3drs199472744
GWAS Ctlgrs199472744
Max Magnitude0
ClinVar
Risk rs199472744(A;A)
Alt rs199472744(A;A)
Reference rs199472744(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2604672T>A
CLNSRC ClinVar
CLNACC RCV000057805.2,