rs4878639

This is a intron variant variant in the RECK gene.

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GWAS Catalog Trait Associations (1)

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

serum IgG glycosylation measurement

Lauc G et al. “Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.” Plos Genetics 9(1):e1003225 (2013)

Allele C

OR 0.20

p 4.0e-8

N 2,247

Large GWAS

European

About RECK

The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

View all RECK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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