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rs199472731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472731(C;C)
Make rs199472731(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572897
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472731
ebirs199472731
HLIrs199472731
Exacrs199472731
Varsomers199472731
Maprs199472731
PheGenIrs199472731
hapmaprs199472731
1000 genomesrs199472731
hgdprs199472731
ensemblrs199472731
gopubmedrs199472731
geneviewrs199472731
scholarrs199472731
googlers199472731
pharmgkbrs199472731
gwascentralrs199472731
openSNPrs199472731
23andMers199472731
23andMe allrs199472731
SNP Nexus

SNPshotrs199472731
SNPdbers199472731
MSV3drs199472731
GWAS Ctlgrs199472731
Max Magnitude0
ClinVar
Risk rs199472731(C;C)
Alt rs199472731(C;C)
Reference rs199472731(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.2594127T>C
CLNSRC ClinVar
CLNACC RCV000057776.2,