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rs199472739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472739(A;A)
Make rs199472739(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572969
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472739
ebirs199472739
HLIrs199472739
Exacrs199472739
Varsomers199472739
Maprs199472739
PheGenIrs199472739
hapmaprs199472739
1000 genomesrs199472739
hgdprs199472739
ensemblrs199472739
gopubmedrs199472739
geneviewrs199472739
scholarrs199472739
googlers199472739
pharmgkbrs199472739
gwascentralrs199472739
openSNPrs199472739
23andMers199472739
23andMe allrs199472739
SNP Nexus

SNPshotrs199472739
SNPdbers199472739
MSV3drs199472739
GWAS Ctlgrs199472739
Max Magnitude0
ClinVar
Risk rs199472739(A;A)
Alt rs199472739(A;A)
Reference rs199472739(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.2594199G>A
CLNSRC ClinVar
CLNACC RCV000046147.2, RCV000057790.2,