rs1800451

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 1052,771,466 (GRCh38)
Highest magnitude
1.6Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
5%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadmannose binding deficiency but of low clinical importanceMinor · 1.61% of people
  2. C;TBadcarrier of mannose binding deficiency but of low clinical importanceMinor · 1.115% of people
  3. C;CGoodcommon in clinvarTypical · 0.084% of people

SNPedia records rs1800451 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 9 HapMap populations.

  • AverageT;T 1% C;T 15% C;C 84%
  • European ancestry (Utah)T;T 0% C;T 4% C;C 97%
  • Han Chinese (Beijing)T;T 0% C;T <1% C;C 99%
  • Japanese (Tokyo)T;T 0% C;T <1% C;C 99%
  • Yoruba (Nigeria)T;T 5% C;T 37% C;C 58%
  • African ancestry (Southwest US)T;T 2% C;T 33% C;C 65%
  • Gujarati IndianT;T 0% C;T 2% C;C 98%
  • Luhya (Kenya)T;T <1% C;T 25% C;C 74%
  • Mexican ancestry (Los Angeles)T;T 0% C;T 7% C;C 93%
  • Maasai (Kenya)T;T 1% C;T 28% C;C 71%

Other MBL2 SNPs

All MBL2 SNPs

Notes

From SNPedia

Show notes, about 270 words

A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. 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. Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries. 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. Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro. DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

Source and license

Adapted from rs1800451 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.