rs5030737

This is a protein-altering variant in the MBL2 gene.

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GWAS Catalog Trait Associations (2)

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

mannose-binding protein C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.34
p 6.0e-256
N 47,745
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.39
p 6.0e-46
N 10,708
Large GWAS
European

blood protein amount

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 1.09
p 9.0e-13
N 200
Small 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 A
OR 0.30
p 2.0e-12
N 5,368
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
7 submitters16 publications

Cystic fibrosis (CF); Mannose-binding lectin deficiency

View on ClinVar →
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Research that mentions this SNP (2)

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Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China
AssociationN=1,110Deng-Feng Zhang et al.(2013)· Human Genetics

Genetic variants in three complement pathway genes (FCN2, MBL2, CFH) were associated with leprosy susceptibility in 527 Han Chinese patients and 583 controls. Significant variants included FCN2 rs3811140 (OR=2.227, P=0.029) and rs7851696 (OR=2.342, P=0.019) for paucibacillary leprosy, MBL2 rs7100749 and rs11003124 for overall leprosy, and CFH rs3753395 (OR=0.822, P=0.031) and rs1065489 (OR=0.834, P=0.036) showing protective effects. Haplotype CAG in CFH showed strong risk (OR=1.499, P=0.0006) while MBL2 variants demonstrated variable effects on leprosy subtypes.

Traits studied:Borderline-lepromatous leprosyBorderline-tuberculoid leprosyLepromatous leprosyLeprosyMultibacillary leprosyPaucibacillary leprosyTuberculoid leprosy
PubMedDOIMetascience Observatory
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Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans
AssociationN=6,779Lyna Zhang et al.(2012)· Hepatology

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

Traits studied:Anti-HAV seropositivityHepatitis A virus (HAV) infection
PubMedDOIMetascience Observatory

About MBL2

This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]

View all MBL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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