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rs199472813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472813(A;A)
Make rs199472813(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2778011
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472813
ebirs199472813
HLIrs199472813
Exacrs199472813
Varsomers199472813
Maprs199472813
PheGenIrs199472813
hapmaprs199472813
1000 genomesrs199472813
hgdprs199472813
ensemblrs199472813
gopubmedrs199472813
geneviewrs199472813
scholarrs199472813
googlers199472813
pharmgkbrs199472813
gwascentralrs199472813
openSNPrs199472813
23andMers199472813
23andMe allrs199472813
SNP Nexus

SNPshotrs199472813
SNPdbers199472813
MSV3drs199472813
GWAS Ctlgrs199472813
Max Magnitude0
ClinVar
Risk rs199472813(A;A)
Alt rs199472813(A;A)
Reference rs199472813(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided not specified
Reversed 0
HGVS NC_000011.9:g.2799241G>A
CLNSRC ClinVar
CLNACC RCV000046027.2, RCV000057634.2, RCV000182224.2, RCV000223805.1,