rs210142

This variant is located in the BAK1 gene.

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GWAS Catalog Trait Associations (4)

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

platelet crit

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 0.11
p 3.0e-171
N 164,339
Large GWAS
European

platelet count

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 0.10
p 1.0e-144
N 166,066
Large GWAS
European

eosinophil percentage of leukocytes

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 4.0e-54
N 394,642
Large GWAS
European

chronic lymphocytic leukemia

Slager SL et al. “Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.” Blood 120(4):843-6 (2012)
Allele C
OR 1.40
p 9.0e-16
N 4,866
Large GWAS
European
Berndt SI et al. “Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.” Nature Genetics 45(8):868-76 (2013)
Allele C
OR 1.22
p 5.0e-8
N 8,400
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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