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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
dbSNP (classic)rs199472742
ClinGenrs199472742
ebirs199472742
HLIrs199472742
Exacrs199472742
Gnomadrs199472742
Varsomers199472742
LitVarrs199472742
Maprs199472742
PheGenIrs199472742
Biobankrs199472742
1000 genomesrs199472742
hgdprs199472742
ensemblrs199472742
geneviewrs199472742
scholarrs199472742
googlers199472742
pharmgkbrs199472742
gwascentralrs199472742
openSNPrs199472742
23andMers199472742
SNPshotrs199472742
SNPdbers199472742
MSV3drs199472742
GWAS Ctlgrs199472742
Max Magnitude0
ClinVar
Risk rs199472742(T;T)
Alt rs199472742(T;T)
Reference Rs199472742(G;G)
Significance Untested
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 UniProtKB (protein)
CLNACC RCV000046153.2, RCV000057799.3,