rs7226979

This variant is located in the BCL2 gene.

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GWAS Catalog Trait Associations (2)

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

Hirsutism

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)

Allele C

OR 1.21

p 7.0e-11

N 11,244

Large GWAS

East Asian

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele T

OR —

β 0.038

p 3.0e-9

N 52,874

Large GWAS

European

About BCL2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all BCL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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