rs1800451
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.6 | mannose binding deficiency but of low clinical importance |
| (A;G) | 1.1 | carrier of mannose binding deficiency but of low clinical importance |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 52771466 |
| Gene | MBL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800451 |
| dbSNP (classic) | rs1800451 |
| ClinGen | rs1800451 |
| ebi | rs1800451 |
| HLI | rs1800451 |
| Exac | rs1800451 |
| Gnomad | rs1800451 |
| Varsome | rs1800451 |
| LitVar | rs1800451 |
| Map | rs1800451 |
| PheGenI | rs1800451 |
| Biobank | rs1800451 |
| 1000 genomes | rs1800451 |
| hgdp | rs1800451 |
| ensembl | rs1800451 |
| geneview | rs1800451 |
| scholar | rs1800451 |
| rs1800451 | |
| pharmgkb | rs1800451 |
| gwascentral | rs1800451 |
| openSNP | rs1800451 |
| 23andMe | rs1800451 |
| SNPshot | rs1800451 |
| SNPdbe | rs1800451 |
| MSV3d | rs1800451 |
| GWAS Ctlg | rs1800451 |
| GMAF | 0.05464 |
| Max Magnitude | 1.6 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22340886] [Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]
| ClinVar | |
|---|---|
| Risk | Rs1800451(A;A) |
| Alt | Rs1800451(A;A) |
| Reference | Rs1800451(G;G) |
| Significance | Other |
| Disease | Mannose-binding protein deficiency not specified |
| Variation | info |
| Gene | MBL2 |
| CLNDBN | Mannose-binding protein deficiency not specified |
| Reversed | 1 |
| HGVS | NC_000010.10:g.54531226C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015425.24, RCV000455297.1, |
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18452612] MBL2 and hepatitis C virus infection among injection drug users.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19139195] Genetic polymorphisms of mannose-binding lectin do not influence placental malaria but are associated with preterm deliveries.
[PMID 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[PMID 19432958] Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20042521] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20465856] Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.
[PMID 21211797] Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.
[PMID 22035380] Mannose-binding lectin and MBL-associated serine protease-2 gene polymorphisms in a Brazilian population from Rio de Janeiro.
[PMID 22417159] DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
[PMID 22848725] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
[PMID 31141020] Association between MBL2 haplotypes and dengue severity in children from Rio de Janeiro, Brazil.
