rs10439607

This is a regulatory region variant variant in the BCL2L1 gene.

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GWAS Catalog Trait Associations (3)

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

putamen volume

Satizabal CL et al. “Genetic architecture of subcortical brain structures in 38,851 individuals.” Nature Genetics 51(11):1624-1636 (2019)
Allele A
OR 8.13
p 4.0e-16
N 37,571
Large GWAS
multi-ancestry

caudate nucleus volume

Satizabal CL et al. “Genetic architecture of subcortical brain structures in 38,851 individuals.” Nature Genetics 51(11):1624-1636 (2019)
Allele A
OR 6.76
p 1.0e-11
N 37,741
Large GWAS
multi-ancestry

pallidum volume

Satizabal CL et al. “Genetic architecture of subcortical brain structures in 38,851 individuals.” Nature Genetics 51(11):1624-1636 (2019)
Allele A
OR 6.17
p 7.0e-10
N 34,413
Large GWAS
multi-ancestry

About BCL2L1

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]

View all BCL2L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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