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rs199472682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472682(A;A)
Make rs199472682(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445479
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472682
ebirs199472682
HLIrs199472682
Exacrs199472682
Varsomers199472682
Maprs199472682
PheGenIrs199472682
hapmaprs199472682
1000 genomesrs199472682
hgdprs199472682
ensemblrs199472682
gopubmedrs199472682
geneviewrs199472682
scholarrs199472682
googlers199472682
pharmgkbrs199472682
gwascentralrs199472682
openSNPrs199472682
23andMers199472682
23andMe allrs199472682
SNP Nexus

SNPshotrs199472682
SNPdbers199472682
MSV3drs199472682
GWAS Ctlgrs199472682
Max Magnitude0
ClinVar
Risk rs199472682(A,T;A,T)
Alt rs199472682(A,T;A,T)
Reference rs199472682(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466709C>A
CLNSRC ClinVar
CLNACC RCV000057665.2,