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rs199472715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472715(C;C)
Make rs199472715(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572078
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472715
ebirs199472715
HLIrs199472715
Exacrs199472715
Varsomers199472715
Maprs199472715
PheGenIrs199472715
hapmaprs199472715
1000 genomesrs199472715
hgdprs199472715
ensemblrs199472715
gopubmedrs199472715
geneviewrs199472715
scholarrs199472715
googlers199472715
pharmgkbrs199472715
gwascentralrs199472715
openSNPrs199472715
23andMers199472715
23andMe allrs199472715
SNP Nexus

SNPshotrs199472715
SNPdbers199472715
MSV3drs199472715
GWAS Ctlgrs199472715
Max Magnitude0
ClinVar
Risk rs199472715(A,C;A,C)
Alt rs199472715(A,C;A,C)
Reference rs199472715(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.2593308T>A; NC_000011.9:g.2593308T>C
CLNSRC ClinVar
CLNACC RCV000046116.2, RCV000057746.2, RCV000057747.2,