rs210143

This variant is located in the BAK1 gene.

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GWAS Catalog Trait Associations (8)

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

platelet count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 1.0e-218
N 235,256
Large GWAS
European
Little A et al. “Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.” Human Molecular Genetics 31(3):347-361 (2022)
Allele T
OR 5.68
p 2.0e-41
N 61,200
Large GWAS
multi-ancestry

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)
Allele T
OR 0.04
p 3.0e-36
N 295,150
Large GWAS
European
Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele T
OR 0.03
p 3.0e-16
N 163,372
Large GWAS
multi-ancestry

phosphate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 6.0e-34
N 394,642
Large GWAS
European

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 5.0e-17
N 408,112
Large GWAS
European

chronic lymphocytic leukemia

Law PJ et al. “Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.” Nature Communications 8:14175 (2017)
Allele C
OR 1.26
p 6.0e-16
N 17,691
Large GWAS
European

neutrophil percentage of granulocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.03
p 3.0e-15
N 170,672
Large GWAS
European

About BAK1

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]

View all BAK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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