rs75282758

This variant is located in the CR2 gene.

GWAS Catalog Trait Associations (1)

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

level of complement receptor type 2 in blood

Allele T
OR 0.59
p 2.0e-88
N 47,745
Large GWAS
European

ClinVar annotation

Conflicting Classifications
9 submitters4 publications

not specified; not provided; Immunodeficiency, common variable, 7; Systemic lupus erythematosus, susceptibility to, 9;Immunodeficiency, common variable, 7; CR2-related disorder

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About CR2

This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

View all CR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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