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rs2519184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2519184(A;A)
Make rs2519184(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position2848482
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs2519184
dbSNP (old)rs2519184
ClinGenrs2519184
ebirs2519184
HLIrs2519184
Exacrs2519184
Gnomadrs2519184
Varsomers2519184
Maprs2519184
PheGenIrs2519184
Biobankrs2519184
1000 genomesrs2519184
hgdprs2519184
ensemblrs2519184
gopubmedrs2519184
geneviewrs2519184
scholarrs2519184
googlers2519184
pharmgkbrs2519184
gwascentralrs2519184
openSNPrs2519184
23andMers2519184
23andMe allrs2519184
SNP Nexus

SNPshotrs2519184
SNPdbers2519184
MSV3drs2519184
GWAS Ctlgrs2519184
Max Magnitude0

[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?


ClinVar
Risk rs2519184(A;A)
Alt rs2519184(A;A)
Reference Rs2519184(G;G)
Significance Non-pathogenic
Disease Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome
Reversed 0
HGVS NC_000011.9:g.2869712G>A
CLNSRC
CLNACC RCV000278908.1, RCV000282640.1, RCV000336354.1, RCV000348924.1, RCV000374654.1,