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rs199472758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472758(C;T)
Make rs199472758(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583526
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472758
ebirs199472758
HLIrs199472758
Exacrs199472758
Varsomers199472758
Maprs199472758
PheGenIrs199472758
hapmaprs199472758
1000 genomesrs199472758
hgdprs199472758
ensemblrs199472758
gopubmedrs199472758
geneviewrs199472758
scholarrs199472758
googlers199472758
pharmgkbrs199472758
gwascentralrs199472758
openSNPrs199472758
23andMers199472758
23andMe allrs199472758
SNP Nexus

SNPshotrs199472758
SNPdbers199472758
MSV3drs199472758
GWAS Ctlgrs199472758
Max Magnitude0
ClinVar
Risk rs199472758(T;T)
Alt rs199472758(T;T)
Reference rs199472758(C;C)
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.2604756C>T
CLNSRC ClinVar
CLNACC RCV000045928.2, RCV000057523.2,