rs210134

This variant is located in the BAK1 gene.

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GWAS Catalog Trait Associations (2)

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

platelet count

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele G
OR 4.96
p 7.0e-36
N 48,666
Large GWAS
European
Qayyum R et al. “A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.” Plos Genetics 8(3):e1002491 (2012)
Allele G
OR 6.16
p 2.0e-15
N 16,388
Meta-analysisLarge GWAS
African American or Afro-Caribbean
Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele G
OR 8.92
p 2.0e-8
N 14,177
Large GWAS
multi-ancestry
Schick UM et al. “Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.” American Journal of Human Genetics 98(2):229-42 (2016)
Allele G
OR 4.94
p 9.0e-9
N 12,491
Large GWAS
Hispanic or Latin American

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 1.0e-9
N 2,365,010
Meta-analysisLarge 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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