rs2487928
This is a regulatory region variant variant in the JCAD gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of advanced glycosylation end product-specific receptor in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-18
N 47,745
Large GWAS
European
coronary artery disease
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.05
p 2.0e-17
N 250,736
Large GWAS
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 2.0e-12
N 640,258
Large GWAS
European, East Asian
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele A
OR 1.06
p 4.0e-11
N 187,599
Meta-analysisLarge GWAS
multi-ancestry
large artery stroke
Mishra A et al. “Stroke genetics informs drug discovery and risk prediction across ancestries.” Nature 611(7934):115-123 (2022)
Allele A
OR 1.06
p 7.0e-12
N 1,241,207
Large GWAS
European
advanced glycosylation end product-specific receptor amount
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR —
β 0.056
p 3.0e-11
N 21,758
Large GWAS
European
About JCAD
This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]
View all JCAD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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