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rs199472746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472746(C;T)
Make rs199472746(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583445
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472746
ebirs199472746
HLIrs199472746
Exacrs199472746
Varsomers199472746
Maprs199472746
PheGenIrs199472746
hapmaprs199472746
1000 genomesrs199472746
hgdprs199472746
ensemblrs199472746
gopubmedrs199472746
geneviewrs199472746
scholarrs199472746
googlers199472746
pharmgkbrs199472746
gwascentralrs199472746
openSNPrs199472746
23andMers199472746
23andMe allrs199472746
SNP Nexus

SNPshotrs199472746
SNPdbers199472746
MSV3drs199472746
GWAS Ctlgrs199472746
Max Magnitude0
ClinVar
Risk rs199472746(T;T)
Alt rs199472746(T;T)
Reference rs199472746(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.2604675C>T
CLNSRC ClinVar
CLNACC RCV000046164.2, RCV000057807.2,