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rs199472784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472784(C;T)
Make rs199472784(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2661997
GeneKCNQ1, KCNQ1OT1
is asnp
is mentioned by
dbSNPrs199472784
ebirs199472784
HLIrs199472784
Exacrs199472784
Varsomers199472784
Maprs199472784
PheGenIrs199472784
hapmaprs199472784
1000 genomesrs199472784
hgdprs199472784
ensemblrs199472784
gopubmedrs199472784
geneviewrs199472784
scholarrs199472784
googlers199472784
pharmgkbrs199472784
gwascentralrs199472784
openSNPrs199472784
23andMers199472784
23andMe allrs199472784
SNP Nexus

SNPshotrs199472784
SNPdbers199472784
MSV3drs199472784
GWAS Ctlgrs199472784
Max Magnitude0
ClinVar
Risk rs199472784(T;T)
Alt rs199472784(T;T)
Reference rs199472784(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1OT1 KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2683227C>T
CLNSRC ClinVar
CLNACC RCV000057587.2,