rs11868441

This is a intron variant variant in the BCAS3 gene.

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GWAS Catalog Trait Associations (8)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.24
p 9.0e-15
N 1,028,980
Large GWAS
multi-ancestry

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.12
p 2.0e-10
N 1,028,980
Large GWAS
multi-ancestry

glomerular filtration rate

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.51
p 2.0e-10
N 58,406
Large GWAS
East Asian

urinary system trait, blood urea nitrogen amount

Okada Y et al. “Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.” Nature Genetics 44(8):904-9 (2012)
Allele G
OR 0.01
p 2.0e-9
N 39,717
Meta-analysisLarge GWAS
East Asian

blood urea nitrogen amount

Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele A
OR 0.01
p 4.0e-9
N 58,406
Large GWAS
East Asian

kidney volume

Monteiro-Martins S et al. “Genetic screens of imaging-derived kidney volumes identify genes linked to kidney function.” Kidney International 109(2):365-378 (2026)
Allele A
OR 0.05
p 1.0e-8
N 38,816
Large GWAS
European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.12
p 5.0e-8
N 1,028,980
Large GWAS
multi-ancestry

platelet count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 2.0e-11
N 583,459
Major Consortium StudyLarge GWAS
multi-ancestry

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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