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rs199472786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472786(C;C)
Make rs199472786(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2768870
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472786
ebirs199472786
HLIrs199472786
Exacrs199472786
Varsomers199472786
Maprs199472786
PheGenIrs199472786
hapmaprs199472786
1000 genomesrs199472786
hgdprs199472786
ensemblrs199472786
gopubmedrs199472786
geneviewrs199472786
scholarrs199472786
googlers199472786
pharmgkbrs199472786
gwascentralrs199472786
openSNPrs199472786
23andMers199472786
23andMe allrs199472786
SNP Nexus

SNPshotrs199472786
SNPdbers199472786
MSV3drs199472786
GWAS Ctlgrs199472786
Max Magnitude0
ClinVar
Risk rs199472786(C;C)
Alt rs199472786(C;C)
Reference rs199472786(T;T)
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.2790100T>C
CLNSRC ClinVar
CLNACC RCV000045994.2, RCV000057590.2,