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rs199472733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472733(C;C)
Make rs199472733(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572910
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472733
ebirs199472733
HLIrs199472733
Exacrs199472733
Varsomers199472733
Maprs199472733
PheGenIrs199472733
hapmaprs199472733
1000 genomesrs199472733
hgdprs199472733
ensemblrs199472733
gopubmedrs199472733
geneviewrs199472733
scholarrs199472733
googlers199472733
pharmgkbrs199472733
gwascentralrs199472733
openSNPrs199472733
23andMers199472733
23andMe allrs199472733
SNP Nexus

SNPshotrs199472733
SNPdbers199472733
MSV3drs199472733
GWAS Ctlgrs199472733
Max Magnitude0
ClinVar
Risk rs199472733(C;C)
Alt rs199472733(C;C)
Reference rs199472733(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.2594140T>C
CLNSRC ClinVar
CLNACC RCV000057779.2,