rs8080123

This variant is located in the BCAS3 gene.

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GWAS Catalog Trait Associations (6)

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

glomerular filtration rate

Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele G
OR 0.63
p 2.0e-26
N 312,296
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 2.0e-24
N 394,642
Large GWAS
European

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 6.0e-20
N 408,112
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 1.0e-18
N 408,112
Large GWAS
European

erythrocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 8.0e-15
N 408,112
Large GWAS
European

vascular endothelial growth factor receptor 3 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 2.0e-11
N 47,745
Large GWAS
European

About BCAS3

Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in euchromatin; nucleus; and phagophore assembly site. Implicated in Hengel-Maroofian-Schols syndrome. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]

View all BCAS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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