rs5932715

This variant is located in the BCORL1 gene.

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GWAS Catalog Trait Associations (1)

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

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.02

p 4.0e-9

N 408,112

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Uveal melanoma; Sarcoma; Uterine carcinosarcoma; Thymoma; Acute myeloid leukemia; Malignant lymphoma, large B-cell, diffuse; Adrenocortical carcinoma, hereditary

View on ClinVar →

About BCORL1

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

View all BCORL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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