rs5030737
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.1 | carrier of mannose binding deficiency but of low clinical importance |
| (T;T) | 1.6 | mannose binding deficiency but of low clinical importance |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 52771482 |
| Gene | MBL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030737 |
| dbSNP (classic) | rs5030737 |
| ClinGen | rs5030737 |
| ebi | rs5030737 |
| HLI | rs5030737 |
| Exac | rs5030737 |
| Gnomad | rs5030737 |
| Varsome | rs5030737 |
| LitVar | rs5030737 |
| Map | rs5030737 |
| PheGenI | rs5030737 |
| Biobank | rs5030737 |
| 1000 genomes | rs5030737 |
| hgdp | rs5030737 |
| ensembl | rs5030737 |
| geneview | rs5030737 |
| scholar | rs5030737 |
| rs5030737 | |
| pharmgkb | rs5030737 |
| gwascentral | rs5030737 |
| openSNP | rs5030737 |
| 23andMe | rs5030737 |
| SNPshot | rs5030737 |
| SNPdbe | rs5030737 |
| MSV3d | rs5030737 |
| GWAS Ctlg | rs5030737 |
| GMAF | 0.02847 |
| Max Magnitude | 1.6 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs5030737(T;T) |
| Alt | Rs5030737(T;T) |
| Reference | Rs5030737(C;C) |
| Significance | Pathogenic |
| Disease | Mannose-binding protein deficiency |
| Variation | info |
| Gene | MBL2 |
| CLNDBN | Mannose-binding protein deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.54531242G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015426.27, |
[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 19366862] Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
[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 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
[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 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.
