rs3820897

This is a regulatory region variant variant in the COLEC11 gene.

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GWAS Catalog Trait Associations (64)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.86
p 4.0e-188
N 3,200
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.16
p 3.0e-122
N 47,745
Large GWAS
European
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele C
OR 0.18
p 5.0e-13
N 5,368
Large GWAS
European

interleukin-19 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele C
OR —
β 0.810
p 3.0e-158
N 3,301
Large GWAS
European

interleukin 9 measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.58
p 4.0e-146
N 5,359
Large GWAS
European

peptidyl-prolyl cis-trans isomerase B measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.38
p 6.0e-105
N 10,708
Large GWAS
European

high affinity nerve growth factor receptor level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.34
p 2.0e-86
N 10,708
Large GWAS
European

ficolin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 5.0e-80
N 47,745
Large GWAS
European

level of plexin domain-containing protein 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 4.0e-74
N 47,745
Large GWAS
European

sialic acid-binding Ig-like lectin 14 amount

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele C
OR —
β 0.480
p 3.0e-49
N 3,301
Large GWAS
European

acid sphingomyelinase-like phosphodiesterase 3a measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.22
p 2.0e-38
N 10,708
Large GWAS
European

About COLEC11

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all COLEC11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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