rs1800520
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1800520(C;C) |
| Make rs1800520(C;G) |
| Make rs1800520(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44290023 |
| Gene | AIRE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800520 |
| dbSNP (classic) | rs1800520 |
| ClinGen | rs1800520 |
| ebi | rs1800520 |
| HLI | rs1800520 |
| Exac | rs1800520 |
| Gnomad | rs1800520 |
| Varsome | rs1800520 |
| LitVar | rs1800520 |
| Map | rs1800520 |
| PheGenI | rs1800520 |
| Biobank | rs1800520 |
| 1000 genomes | rs1800520 |
| hgdp | rs1800520 |
| ensembl | rs1800520 |
| geneview | rs1800520 |
| scholar | rs1800520 |
| rs1800520 | |
| pharmgkb | rs1800520 |
| gwascentral | rs1800520 |
| openSNP | rs1800520 |
| 23andMe | rs1800520 |
| SNPshot | rs1800520 |
| SNPdbe | rs1800520 |
| MSV3d | rs1800520 |
| GWAS Ctlg | rs1800520 |
| GMAF | 0.2296 |
| Max Magnitude | 0 |
[PMID 20363194] The role of AIRE polymorphisms in melanoma
[PMID 19758376] Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
| ClinVar | |
|---|---|
| Risk | rs1800520(A;A) rs1800520(G;G) rs1800520(T;T) |
| Alt | rs1800520(A;A) rs1800520(G;G) rs1800520(T;T) |
| Reference | rs1800520(C;C) |
| Significance | Other |
| Disease | not specified |
| Variation | info |
| Gene | AIRE |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.45709906C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116303.4, |
[PMID 27264825] [Association of AIRE gene polymorphisms with susceptibility to rheumatoid arthritis among ethnic Han Chinese from Shaanxi].
[PMID 29849988
] Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population.
