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rs199472741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472741(C;C)
Make rs199472741(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572978
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472741
ebirs199472741
HLIrs199472741
Exacrs199472741
Varsomers199472741
Maprs199472741
PheGenIrs199472741
hapmaprs199472741
1000 genomesrs199472741
hgdprs199472741
ensemblrs199472741
gopubmedrs199472741
geneviewrs199472741
scholarrs199472741
googlers199472741
pharmgkbrs199472741
gwascentralrs199472741
openSNPrs199472741
23andMers199472741
23andMe allrs199472741
SNP Nexus

SNPshotrs199472741
SNPdbers199472741
MSV3drs199472741
GWAS Ctlgrs199472741
Max Magnitude0
ClinVar
Risk rs199472741(C;C)
Alt rs199472741(C;C)
Reference rs199472741(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.2594208T>C
CLNSRC ClinVar
CLNACC RCV000046149.2, RCV000057795.2,