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rs569058293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 2.2 for heavy smokers, ~6x increased risk for COPD
Make rs569058293(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position114305728
is asnp
is mentioned by
dbSNPrs569058293
dbSNP (old)rs569058293
ClinGenrs569058293
ebirs569058293
HLIrs569058293
Exacrs569058293
Gnomadrs569058293
Varsomers569058293
Maprs569058293
PheGenIrs569058293
Biobankrs569058293
1000 genomesrs569058293
hgdprs569058293
ensemblrs569058293
gopubmedrs569058293
geneviewrs569058293
scholarrs569058293
googlers569058293
pharmgkbrs569058293
gwascentralrs569058293
openSNPrs569058293
23andMers569058293
23andMe allrs569058293
SNP Nexus

SNPshotrs569058293
SNPdbers569058293
MSV3drs569058293
GWAS Ctlgrs569058293
Max Magnitude2.2
rs569058293 represents a rare variant in the intergenic region between the RBM19 and TBX5 genes on chromosome 12.

rs569058293 was the variant leading to the most dramatic risk increase for COPD in the large GWA study of heavy smokers in the UK Biobank project. The odds ratios for the minor allele for association with COPD was 6.44 (CI: 2.9-14.4, p=5.4x10e-6), and the association for reduced forced expiratory volume (FEV1) in these heavy smokers was also strong (p=1.3x10e-6).10.1016/S2213-2600(15)00283-0

Note: in the paper cited, rs569058293 is not named; it is only referred to as the SNP at position ch12:114743533 (GRCh37).