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rs199473468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473468(A;T)
Make rs199473468(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583438
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473468
ebirs199473468
HLIrs199473468
Exacrs199473468
Varsomers199473468
Maprs199473468
PheGenIrs199473468
hapmaprs199473468
1000 genomesrs199473468
hgdprs199473468
ensemblrs199473468
gopubmedrs199473468
geneviewrs199473468
scholarrs199473468
googlers199473468
pharmgkbrs199473468
gwascentralrs199473468
openSNPrs199473468
23andMers199473468
23andMe allrs199473468
SNP Nexus

SNPshotrs199473468
SNPdbers199473468
MSV3drs199473468
GWAS Ctlgrs199473468
Max Magnitude0
ClinVar
Risk rs199473468(T;T)
Alt rs199473468(T;T)
Reference rs199473468(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2604668A>T
CLNSRC ClinVar
CLNACC RCV000059355.2,