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rs199472812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472812(A;G)
Make rs199472812(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2777999
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472812
ebirs199472812
HLIrs199472812
Exacrs199472812
Varsomers199472812
Maprs199472812
PheGenIrs199472812
hapmaprs199472812
1000 genomesrs199472812
hgdprs199472812
ensemblrs199472812
gopubmedrs199472812
geneviewrs199472812
scholarrs199472812
googlers199472812
pharmgkbrs199472812
gwascentralrs199472812
openSNPrs199472812
23andMers199472812
23andMe allrs199472812
SNP Nexus

SNPshotrs199472812
SNPdbers199472812
MSV3drs199472812
GWAS Ctlgrs199472812
Max Magnitude0
ClinVar
Risk rs199472812(G;G)
Alt rs199472812(G;G)
Reference rs199472812(A;A)
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.2799229A>G
CLNSRC ClinVar
CLNACC RCV000046025.2, RCV000057631.2,