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rs199472703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472703(A;T)
Make rs199472703(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2571330
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472703
ebirs199472703
HLIrs199472703
Exacrs199472703
Varsomers199472703
Maprs199472703
PheGenIrs199472703
hapmaprs199472703
1000 genomesrs199472703
hgdprs199472703
ensemblrs199472703
gopubmedrs199472703
geneviewrs199472703
scholarrs199472703
googlers199472703
pharmgkbrs199472703
gwascentralrs199472703
openSNPrs199472703
23andMers199472703
23andMe allrs199472703
SNP Nexus

SNPshotrs199472703
SNPdbers199472703
MSV3drs199472703
GWAS Ctlgrs199472703
Max Magnitude0
ClinVar
Risk rs199472703(T;T)
Alt rs199472703(T;T)
Reference rs199472703(A;A)
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.2592560A>T
CLNSRC ClinVar
CLNACC RCV000046097.2, RCV000057721.2,