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rs199472782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472782(C;T)
Make rs199472782(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2588812
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472782
ebirs199472782
HLIrs199472782
Exacrs199472782
Varsomers199472782
Maprs199472782
PheGenIrs199472782
hapmaprs199472782
1000 genomesrs199472782
hgdprs199472782
ensemblrs199472782
gopubmedrs199472782
geneviewrs199472782
scholarrs199472782
googlers199472782
pharmgkbrs199472782
gwascentralrs199472782
openSNPrs199472782
23andMers199472782
23andMe allrs199472782
SNP Nexus

SNPshotrs199472782
SNPdbers199472782
MSV3drs199472782
GWAS Ctlgrs199472782
Max Magnitude0
ClinVar
Risk rs199472782(T;T)
Alt rs199472782(T;T)
Reference rs199472782(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2610042C>T
CLNSRC ClinVar
CLNACC RCV000057580.2, RCV000182186.2,