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rs779383393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Romano-Ward Long QT Syndrome
(T;T) 0 common in clinvar


Make rs779383393(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position2585230
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs779383393
dbSNP (classic)rs779383393
ClinGenrs779383393
ebirs779383393
HLIrs779383393
Exacrs779383393
Gnomadrs779383393
Varsomers779383393
LitVarrs779383393
Maprs779383393
PheGenIrs779383393
Biobankrs779383393
1000 genomesrs779383393
hgdprs779383393
ensemblrs779383393
geneviewrs779383393
scholarrs779383393
googlers779383393
pharmgkbrs779383393
gwascentralrs779383393
openSNPrs779383393
23andMers779383393
SNPshotrs779383393
SNPdbers779383393
MSV3drs779383393
GWAS Ctlgrs779383393
Max Magnitude5
ClinVar
Risk rs779383393(C;C)
Alt rs779383393(C;C)
Reference Rs779383393(T;T)
Significance Pathogenic
Disease Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2606460T>C
CLNSRC
CLNACC RCV000234806.2,