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rs199473462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473462(A;A)
Make rs199473462(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572904
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473462
ebirs199473462
HLIrs199473462
Exacrs199473462
Varsomers199473462
Maprs199473462
PheGenIrs199473462
hapmaprs199473462
1000 genomesrs199473462
hgdprs199473462
ensemblrs199473462
gopubmedrs199473462
geneviewrs199473462
scholarrs199473462
googlers199473462
pharmgkbrs199473462
gwascentralrs199473462
openSNPrs199473462
23andMers199473462
23andMe allrs199473462
SNP Nexus

SNPshotrs199473462
SNPdbers199473462
MSV3drs199473462
GWAS Ctlgrs199473462
Max Magnitude0
ClinVar
Risk rs199473462(A;A)
Alt rs199473462(A;A)
Reference rs199473462(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594134T>A
CLNSRC ClinVar
CLNACC RCV000046143.2, RCV000057777.2,