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rs199472710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472710(A;A)
Make rs199472710(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572033
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472710
ebirs199472710
HLIrs199472710
Exacrs199472710
Varsomers199472710
Maprs199472710
PheGenIrs199472710
hapmaprs199472710
1000 genomesrs199472710
hgdprs199472710
ensemblrs199472710
gopubmedrs199472710
geneviewrs199472710
scholarrs199472710
googlers199472710
pharmgkbrs199472710
gwascentralrs199472710
openSNPrs199472710
23andMers199472710
23andMe allrs199472710
SNP Nexus

SNPshotrs199472710
SNPdbers199472710
MSV3drs199472710
GWAS Ctlgrs199472710
Max Magnitude0
ClinVar
Risk rs199472710(A;A)
Alt rs199472710(A;A)
Reference rs199472710(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.2593263T>A
CLNSRC ClinVar
CLNACC RCV000046108.2, RCV000057735.2,