rs76993203

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

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GWAS Catalog Trait Associations (3)

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

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.01
p 1.0e-14
N 337,739
Large GWAS
European

osteoarthritis, hip, osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.97
p 2.0e-10
N 1,294,321
Large GWAS
multi-ancestry

body height

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 0.03
p 1.0e-18
N 364,553
Major Consortium StudyLarge GWAS
multi-ancestry

About BOK

The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]

View all BOK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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