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rs199472761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472761(C;T)
Make rs199472761(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583541
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472761
ebirs199472761
HLIrs199472761
Exacrs199472761
Varsomers199472761
Maprs199472761
PheGenIrs199472761
hapmaprs199472761
1000 genomesrs199472761
hgdprs199472761
ensemblrs199472761
gopubmedrs199472761
geneviewrs199472761
scholarrs199472761
googlers199472761
pharmgkbrs199472761
gwascentralrs199472761
openSNPrs199472761
23andMers199472761
23andMe allrs199472761
SNP Nexus

SNPshotrs199472761
SNPdbers199472761
MSV3drs199472761
GWAS Ctlgrs199472761
Max Magnitude0
ClinVar
Risk rs199472761(G,T;G,T)
Alt rs199472761(G,T;G,T)
Reference rs199472761(C;C)
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.2604771C>G; NC_000011.9:g.2604771C>T
CLNSRC ClinVar
CLNACC RCV000045936.2, RCV000057531.2, RCV000045937.2, RCV000057532.2,