rs12711521
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs12711521(A;A) |
| Make rs12711521(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11030859 |
| Gene | MASP2, TARDBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12711521 |
| dbSNP (classic) | rs12711521 |
| ClinGen | rs12711521 |
| ebi | rs12711521 |
| HLI | rs12711521 |
| Exac | rs12711521 |
| Gnomad | rs12711521 |
| Varsome | rs12711521 |
| LitVar | rs12711521 |
| Map | rs12711521 |
| PheGenI | rs12711521 |
| Biobank | rs12711521 |
| 1000 genomes | rs12711521 |
| hgdp | rs12711521 |
| ensembl | rs12711521 |
| geneview | rs12711521 |
| scholar | rs12711521 |
| rs12711521 | |
| pharmgkb | rs12711521 |
| gwascentral | rs12711521 |
| openSNP | rs12711521 |
| 23andMe | rs12711521 |
| SNPshot | rs12711521 |
| SNPdbe | rs12711521 |
| MSV3d | rs12711521 |
| GWAS Ctlg | rs12711521 |
| GMAF | 0.3747 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 23055202
] Polymorphisms in pattern-recognition genes in the innate immunity system and risk of non-Hodgkin lymphoma
[PMID 19405982] Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection.
| ClinVar | |
|---|---|
| Risk | rs12711521(A;A) |
| Alt | rs12711521(A;A) |
| Reference | Rs12711521(C;C) |
| Significance | Non-pathogenic |
| Disease | MASP2 deficiency not specified |
| Variation | info |
| Gene | MASP2 |
| CLNDBN | MASP2 deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11090916C>A |
| CLNSRC | |
| CLNACC | RCV000396976.1, RCV000454761.1, |
