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rs199472776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472776(C;T)
Make rs199472776(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2587630
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472776
ebirs199472776
HLIrs199472776
Exacrs199472776
Varsomers199472776
Maprs199472776
PheGenIrs199472776
hapmaprs199472776
1000 genomesrs199472776
hgdprs199472776
ensemblrs199472776
gopubmedrs199472776
geneviewrs199472776
scholarrs199472776
googlers199472776
pharmgkbrs199472776
gwascentralrs199472776
openSNPrs199472776
23andMers199472776
23andMe allrs199472776
SNP Nexus

SNPshotrs199472776
SNPdbers199472776
MSV3drs199472776
GWAS Ctlgrs199472776
Max Magnitude0
ClinVar
Risk rs199472776(G,T;G,T)
Alt rs199472776(G,T;G,T)
Reference rs199472776(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2608860C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000045974.2, RCV000057571.2, RCV000148545.1, RCV000182181.1, RCV000203070.1,