rs179363889
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs179363889(C;T) |
| Make rs179363889(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 21 |
| Position | 44297705 |
| Gene | AIRE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs179363889 |
| dbSNP (classic) | rs179363889 |
| ClinGen | rs179363889 |
| ebi | rs179363889 |
| HLI | rs179363889 |
| Exac | rs179363889 |
| Gnomad | rs179363889 |
| Varsome | rs179363889 |
| LitVar | rs179363889 |
| Map | rs179363889 |
| PheGenI | rs179363889 |
| Biobank | rs179363889 |
| 1000 genomes | rs179363889 |
| hgdp | rs179363889 |
| ensembl | rs179363889 |
| geneview | rs179363889 |
| scholar | rs179363889 |
| rs179363889 | |
| pharmgkb | rs179363889 |
| gwascentral | rs179363889 |
| openSNP | rs179363889 |
| 23andMe | rs179363889 |
| SNPshot | rs179363889 |
| SNPdbe | rs179363889 |
| MSV3d | rs179363889 |
| GWAS Ctlg | rs179363889 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs179363889(T;T) |
| Alt | rs179363889(T;T) |
| Reference | Rs179363889(C;C) |
| Significance | Pathogenic |
| Disease | not provided Polyglandular autoimmune syndrome |
| Variation | info |
| Gene | AIRE |
| CLNDBN | not provided Polyglandular autoimmune syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.45717588C>T |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000059052.2, RCV000409203.1, |
