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rs199472740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472740(C;C)
Make rs199472740(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572973
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472740
ebirs199472740
HLIrs199472740
Exacrs199472740
Varsomers199472740
Maprs199472740
PheGenIrs199472740
hapmaprs199472740
1000 genomesrs199472740
hgdprs199472740
ensemblrs199472740
gopubmedrs199472740
geneviewrs199472740
scholarrs199472740
googlers199472740
pharmgkbrs199472740
gwascentralrs199472740
openSNPrs199472740
23andMers199472740
23andMe allrs199472740
SNP Nexus

SNPshotrs199472740
SNPdbers199472740
MSV3drs199472740
GWAS Ctlgrs199472740
Max Magnitude0
ClinVar
Risk rs199472740(C;C)
Alt rs199472740(C;C)
Reference rs199472740(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.2594203T>C
CLNSRC ClinVar
CLNACC RCV000057793.2,