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rs199472709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472709(A;A)
Make rs199472709(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572021
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472709
ebirs199472709
HLIrs199472709
Exacrs199472709
Varsomers199472709
Maprs199472709
PheGenIrs199472709
hapmaprs199472709
1000 genomesrs199472709
hgdprs199472709
ensemblrs199472709
gopubmedrs199472709
geneviewrs199472709
scholarrs199472709
googlers199472709
pharmgkbrs199472709
gwascentralrs199472709
openSNPrs199472709
23andMers199472709
23andMe allrs199472709
SNP Nexus

SNPshotrs199472709
SNPdbers199472709
MSV3drs199472709
GWAS Ctlgrs199472709
Max Magnitude0
ClinVar
Risk rs199472709(A;A)
Alt rs199472709(A;A)
Reference rs199472709(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Atrial fibrillation Long QT syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome Atrial fibrillation, familial, 3 Long QT syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2593251G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000046107.4, RCV000057734.2, RCV000115007.2, RCV000115008.2, RCV000182101.2,