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rs199472753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472753(C;G)
Make rs199472753(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583471
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472753
ebirs199472753
HLIrs199472753
Exacrs199472753
Varsomers199472753
Maprs199472753
PheGenIrs199472753
hapmaprs199472753
1000 genomesrs199472753
hgdprs199472753
ensemblrs199472753
gopubmedrs199472753
geneviewrs199472753
scholarrs199472753
googlers199472753
pharmgkbrs199472753
gwascentralrs199472753
openSNPrs199472753
23andMers199472753
23andMe allrs199472753
SNP Nexus

SNPshotrs199472753
SNPdbers199472753
MSV3drs199472753
GWAS Ctlgrs199472753
Max Magnitude0
ClinVar
Risk rs199472753(G,T;G,T)
Alt rs199472753(G,T;G,T)
Reference rs199472753(C;C)
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.2604701C>G; NC_000011.9:g.2604701C>T
CLNSRC ClinVar
CLNACC RCV000046179.2, RCV000057826.2, RCV000057827.2, RCV000182143.2, RCV000223841.1,