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rs199472738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472738(C;C)
Make rs199472738(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572952
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472738
ebirs199472738
HLIrs199472738
Exacrs199472738
Varsomers199472738
Maprs199472738
PheGenIrs199472738
hapmaprs199472738
1000 genomesrs199472738
hgdprs199472738
ensemblrs199472738
gopubmedrs199472738
geneviewrs199472738
scholarrs199472738
googlers199472738
pharmgkbrs199472738
gwascentralrs199472738
openSNPrs199472738
23andMers199472738
23andMe allrs199472738
SNP Nexus

SNPshotrs199472738
SNPdbers199472738
MSV3drs199472738
GWAS Ctlgrs199472738
Max Magnitude0
ClinVar
Risk rs199472738(C;C)
Alt rs199472738(C;C)
Reference rs199472738(T;T)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594182T>C
CLNSRC ClinVar
CLNACC RCV000057787.2,