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rs199472764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472764(C;C)
Make rs199472764(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585224
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472764
ebirs199472764
HLIrs199472764
Exacrs199472764
Varsomers199472764
Maprs199472764
PheGenIrs199472764
hapmaprs199472764
1000 genomesrs199472764
hgdprs199472764
ensemblrs199472764
gopubmedrs199472764
geneviewrs199472764
scholarrs199472764
googlers199472764
pharmgkbrs199472764
gwascentralrs199472764
openSNPrs199472764
23andMers199472764
23andMe allrs199472764
SNP Nexus

SNPshotrs199472764
SNPdbers199472764
MSV3drs199472764
GWAS Ctlgrs199472764
Max Magnitude0
ClinVar
Risk rs199472764(C;C)
Alt rs199472764(C;C)
Reference rs199472764(T;T)
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.2606454T>C
CLNSRC ClinVar
CLNACC RCV000045945.2, RCV000057537.2,