rs1800450

A SNP in the MBL2 gene on chromosome 10. Its most notable genotype is T;T: mannose binding deficiency but of low clinical importance

Gene
MBL2
Location
Chr 1052,771,475 (GRCh38)
Highest magnitude
1.6Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
12%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadmannose binding deficiency but of low clinical importanceMinor · 1.62% of people
  2. C;TBadcarrier of mannose binding deficiency but of low clinical importanceMinor · 1.118% of people
  3. C;CGoodcommon in clinvarTypical · 0.080% of people

SNPedia records rs1800450 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageT;T 2% C;T 18% C;C 80%
  • European ancestry (Utah)T;T 2% C;T 27% C;C 72%
  • Han Chinese (Beijing)T;T 2% C;T 22% C;C 76%
  • Japanese (Tokyo)T;T 3% C;T 27% C;C 70%
  • Yoruba (Nigeria)T;T 0% C;T 2% C;C 98%
  • African ancestry (Southwest US)T;T 0% C;T 7% C;C 93%
  • Chinese (Denver)T;T 2% C;T 26% C;C 73%
  • Gujarati IndianT;T 5% C;T 22% C;C 73%
  • Luhya (Kenya)T;T 0% C;T 5% C;C 96%
  • Mexican ancestry (Los Angeles)T;T 0% C;T 31% C;C 69%
  • Maasai (Kenya)T;T <1% C;T 6% C;C 93%
  • TuscanT;T 3% C;T 24% C;C 74%

Other MBL2 SNPs

All MBL2 SNPs

Notes

From SNPedia

Show notes, about 270 words

pulmonary morbidity in preterm infants. related to non-Hodgkin's lymphoma Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Genetic variation and haplotype structures of innate immunity genes in eastern India. MBL2 and hepatitis C virus infection among injection drug users. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy. Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection. Common genetic variation and the control of HIV-1 in humans. Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome. Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes. Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin. The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update. DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

Source and license

Adapted from rs1800450 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.