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rs199472742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472742(G;T)
Make rs199472742(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572982
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472742
ebirs199472742
HLIrs199472742
Exacrs199472742
Varsomers199472742
Maprs199472742
PheGenIrs199472742
hapmaprs199472742
1000 genomesrs199472742
hgdprs199472742
ensemblrs199472742
gopubmedrs199472742
geneviewrs199472742
scholarrs199472742
googlers199472742
pharmgkbrs199472742
gwascentralrs199472742
openSNPrs199472742
23andMers199472742
23andMe allrs199472742
SNP Nexus

SNPshotrs199472742
SNPdbers199472742
MSV3drs199472742
GWAS Ctlgrs199472742
Max Magnitude0
ClinVar
Risk rs199472742(T;T)
Alt rs199472742(T;T)
Reference rs199472742(G;G)
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.2594212G>T
CLNSRC ClinVar
CLNACC RCV000046153.2, RCV000057799.2,