rs730506

This is a regulatory region variant variant in the CDKN1A gene.

GWAS Catalog Trait Associations (7)

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

atrial fibrillation

Allele C
OR 0.07
p 3.0e-59
N 1,840,341
Large GWAS
European
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.07
p 1.0e-8
N 589,441
Large GWAS
multi-ancestry

atrial flutter

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 G
OR 0.09
p 1.0e-15
N 620,415
Major Consortium StudyLarge GWAS
multi-ancestry

PR interval

Allele C
OR 0.62
p 7.0e-15
N 292,566
Large GWAS
multi-ancestry

Paroxysmal ventricular tachycardia

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 G
OR 0.13
p 2.0e-12
N 623,360
Major Consortium StudyLarge GWAS
multi-ancestry

electrocardiography

Verweij N et al. The Genetic Makeup of the Electrocardiogram. Cell Systems 11(3):229-238.e5 (2020)
Allele G
OR 0.04
p 1.0e-8
N 63,706
Major Consortium StudyLarge GWAS
European, NR

About CDKN1A

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]

View all CDKN1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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