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rs199472759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472759(C;C)
Make rs199472759(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583529
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472759
ebirs199472759
HLIrs199472759
Exacrs199472759
Varsomers199472759
Maprs199472759
PheGenIrs199472759
hapmaprs199472759
1000 genomesrs199472759
hgdprs199472759
ensemblrs199472759
gopubmedrs199472759
geneviewrs199472759
scholarrs199472759
googlers199472759
pharmgkbrs199472759
gwascentralrs199472759
openSNPrs199472759
23andMers199472759
23andMe allrs199472759
SNP Nexus

SNPshotrs199472759
SNPdbers199472759
MSV3drs199472759
GWAS Ctlgrs199472759
Max Magnitude0
ClinVar
Risk rs199472759(A,C;A,C)
Alt rs199472759(A,C;A,C)
Reference rs199472759(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome, LQT1 subtype Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2604759T>A; NC_000011.9:g.2604759T>C
CLNSRC ClinVar
CLNACC RCV000057524.2, RCV000045929.2, RCV000057525.2, RCV000182311.1,