rs4242592

This is a regulatory region variant variant in the COLEC10 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Olafsson S et al. “Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(1):225-235 (2020)
Allele T
OR 0.03
p 3.0e-10
N 162,774
Large GWAS
European
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Research that mentions this SNP (1)

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Association Analyses of RANKL/RANK/OPG Gene Polymorphisms with Femoral Neck Compression Strength Index Variation in Caucasians
AssociationN=1,873Shan-Shan Dong et al.(2009)· Calcified Tissue International

This association study of 1,873 subjects from 405 Caucasian nuclear families examined RANKL/RANK/OPG gene polymorphisms in relation to femoral neck compression strength index (fCSI). Three RANKL SNPs (rs12585014, rs7988338, rs2148073) were significantly associated with fCSI (P = 0.0007, 0.0007, and 0.0005, respectively) after Bonferroni correction, with a haplotype showing even stronger association (P = 0.0003). No significant associations were detected with bone mineral density, femoral neck width, or weight.

Traits studied:Femoral neck bone mineral densityFemoral neck compression strength indexFemoral neck widthHip fracture risk
PubMedDOIMetascience Observatory

About COLEC10

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]

View all COLEC10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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