rs1537371

This is a intron variant variant in the CDKN2B-AS1 gene.

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GWAS Catalog Trait Associations (7)

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

coronary atherosclerosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.16
p 3.0e-166
N 602,192
Major Consortium StudyLarge GWAS
multi-ancestry

coronary artery disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.14
p 9.0e-139
N 589,715
Major Consortium StudyLarge GWAS
multi-ancestry

angina pectoris

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.17
p 5.0e-101
N 630,096
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.14
p 2.0e-67
N 600,697
Major Consortium StudyLarge GWAS
multi-ancestry

HMG CoA reductase inhibitor use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.06
p 3.0e-25
N 290,385
Major Consortium StudyLarge GWAS
European

aneurysm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.33
p 3.0e-24
N 571,674
Major Consortium StudyLarge GWAS
multi-ancestry

peripheral vascular disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.12
p 9.0e-24
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

asthma, endometriosis

Adewuyi EO et al. “Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.” Human Reproduction (oxford, England) 37(2):366-383 (2022)
Allele C
OR —
β 0.051
p 2.0e-8
N 519,828
Large GWAS
East Asian, European

About CDKN2B-AS1

This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]

View all CDKN2B-AS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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