rs17368659

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

macrophage metalloelastase level

Folkersen L et al. “Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.” Plos Genetics 13(4):e1006706 (2017)
Allele C
OR 0.82
p 3.0e-171
N 3,394
Large GWAS
European

emphysema pattern measurement

Castaldi PJ et al. “Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.” American Journal of Respiratory and Critical Care Medicine 190(4):399-409 (2014)
Allele G
OR 0.04
p 1.0e-8
N 9,614
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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