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rs199473466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473466(C;C)
Make rs199473466(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572975
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473466
ebirs199473466
HLIrs199473466
Exacrs199473466
Varsomers199473466
Maprs199473466
PheGenIrs199473466
hapmaprs199473466
1000 genomesrs199473466
hgdprs199473466
ensemblrs199473466
gopubmedrs199473466
geneviewrs199473466
scholarrs199473466
googlers199473466
pharmgkbrs199473466
gwascentralrs199473466
openSNPrs199473466
23andMers199473466
23andMe allrs199473466
SNP Nexus

SNPshotrs199473466
SNPdbers199473466
MSV3drs199473466
GWAS Ctlgrs199473466
Max Magnitude0
ClinVar
Risk rs199473466(C;C)
Alt rs199473466(C;C)
Reference rs199473466(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.2594205T>C
CLNSRC ClinVar
CLNACC RCV000046148.2, RCV000057794.2,