rs10824792
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs10824792(C;T) |
| Make rs10824792(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 52766446 |
| Gene | LOC105378305, MBL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10824792 |
| dbSNP (classic) | rs10824792 |
| ClinGen | rs10824792 |
| ebi | rs10824792 |
| HLI | rs10824792 |
| Exac | rs10824792 |
| Gnomad | rs10824792 |
| Varsome | rs10824792 |
| LitVar | rs10824792 |
| Map | rs10824792 |
| PheGenI | rs10824792 |
| Biobank | rs10824792 |
| 1000 genomes | rs10824792 |
| hgdp | rs10824792 |
| ensembl | rs10824792 |
| geneview | rs10824792 |
| scholar | rs10824792 |
| rs10824792 | |
| pharmgkb | rs10824792 |
| gwascentral | rs10824792 |
| openSNP | rs10824792 |
| 23andMe | rs10824792 |
| SNPshot | rs10824792 |
| SNPdbe | rs10824792 |
| MSV3d | rs10824792 |
| GWAS Ctlg | rs10824792 |
| GMAF | 0.4848 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23576520
] Genetic Polymorphisms in Host Innate Immune Sensor Genes and the Risk of Nasopharyngeal Carcinoma in North Africa
[PMID 17071626] The mannose-binding lectin (MBL2) haplotype and breast cancer: an association study in African-American and Caucasian women.
[PMID 17327408] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.
[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 18633131] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.
[PMID 20056178] Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
| ClinVar | |
|---|---|
| Risk | rs10824792(T;T) |
| Alt | rs10824792(T;T) |
| Reference | Rs10824792(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Mannose-binding protein deficiency |
| Variation | info |
| Gene | MBL2 |
| CLNDBN | Mannose-binding protein deficiency |
| Reversed | 0 |
| HGVS | NC_000010.10:g.54526206C>T |
| CLNSRC | |
| CLNACC | RCV000277266.1, |
[PMID 30482481] SNPs in 3'-UTR region of MBL2 increases susceptibility to recurrent vulvovaginal infections by altering sMBL levels.
[PMID 31080578] Impact of SNPs interplay across the locus of MBL2, between MBL and Dectin-1 gene, on women's risk of developing recurrent vulvovaginal infections.
