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rs139042529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139042529(C;T)
Make rs139042529(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570663
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs139042529
dbSNP (classic)rs139042529
ClinGenrs139042529
ebirs139042529
HLIrs139042529
Exacrs139042529
Gnomadrs139042529
Varsomers139042529
LitVarrs139042529
Maprs139042529
PheGenIrs139042529
Biobankrs139042529
1000 genomesrs139042529
hgdprs139042529
ensemblrs139042529
geneviewrs139042529
scholarrs139042529
googlers139042529
pharmgkbrs139042529
gwascentralrs139042529
openSNPrs139042529
23andMers139042529
SNPshotrs139042529
SNPdbers139042529
MSV3drs139042529
GWAS Ctlgrs139042529
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs139042529(A;A) rs139042529(G;G) rs139042529(T;T)
Alt rs139042529(A;A) rs139042529(G;G) rs139042529(T;T)
Reference Rs139042529(C;C)
Significance Other
Disease Long QT syndrome 1 Long QT syndrome not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Short QT syndrome Romano-Ward syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome not specified Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome Romano-Ward syndrome
Reversed 0
HGVS NC_000011.9:g.2591893C>A; NC_000011.9:g.2591893C>G; NC_000011.9:g.2591893C>T
CLNSRC ClinVar
CLNACC RCV000477871.1, RCV000046070.3, RCV000155132.1, RCV000247674.1, RCV000268526.1, RCV000323618.1, RCV000326765.1, RCV000378309.1, RCV000381337.1,