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rs199472745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472745(A;A)
Make rs199472745(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583441
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472745
ebirs199472745
HLIrs199472745
Exacrs199472745
Varsomers199472745
Maprs199472745
PheGenIrs199472745
hapmaprs199472745
1000 genomesrs199472745
hgdprs199472745
ensemblrs199472745
gopubmedrs199472745
geneviewrs199472745
scholarrs199472745
googlers199472745
pharmgkbrs199472745
gwascentralrs199472745
openSNPrs199472745
23andMers199472745
23andMe allrs199472745
SNP Nexus

SNPshotrs199472745
SNPdbers199472745
MSV3drs199472745
GWAS Ctlgrs199472745
Max Magnitude0
ClinVar
Risk rs199472745(A;A)
Alt rs199472745(A;A)
Reference rs199472745(G;G)
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.2604671G>A
CLNSRC ClinVar
CLNACC RCV000046163.2, RCV000057804.2,