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rs199472773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472773(A;A)
Make rs199472773(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2587607
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472773
dbSNP (classic)rs199472773
ClinGenrs199472773
ebirs199472773
HLIrs199472773
Exacrs199472773
Gnomadrs199472773
Varsomers199472773
LitVarrs199472773
Maprs199472773
PheGenIrs199472773
Biobankrs199472773
1000 genomesrs199472773
hgdprs199472773
ensemblrs199472773
geneviewrs199472773
scholarrs199472773
googlers199472773
pharmgkbrs199472773
gwascentralrs199472773
openSNPrs199472773
23andMers199472773
SNPshotrs199472773
SNPdbers199472773
MSV3drs199472773
GWAS Ctlgrs199472773
Max Magnitude0
ClinVar
Risk rs199472773(A;A)
Alt rs199472773(A;A)
Reference Rs199472773(C;C)
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.2608837C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000045970.2, RCV000057566.3,