rs386833673
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs386833673(A;T) |
| Make rs386833673(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44297727 |
| Gene | AIRE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833673 |
| dbSNP (classic) | rs386833673 |
| ClinGen | rs386833673 |
| ebi | rs386833673 |
| HLI | rs386833673 |
| Exac | rs386833673 |
| Gnomad | rs386833673 |
| Varsome | rs386833673 |
| LitVar | rs386833673 |
| Map | rs386833673 |
| PheGenI | rs386833673 |
| Biobank | rs386833673 |
| 1000 genomes | rs386833673 |
| hgdp | rs386833673 |
| ensembl | rs386833673 |
| geneview | rs386833673 |
| scholar | rs386833673 |
| rs386833673 | |
| pharmgkb | rs386833673 |
| gwascentral | rs386833673 |
| openSNP | rs386833673 |
| 23andMe | rs386833673 |
| SNPshot | rs386833673 |
| SNPdbe | rs386833673 |
| MSV3d | rs386833673 |
| GWAS Ctlg | rs386833673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833673(T;T) |
| Alt | rs386833673(T;T) |
| Reference | Rs386833673(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Polyglandular autoimmune syndrome |
| Variation | info |
| Gene | AIRE |
| CLNDBN | Polyglandular autoimmune syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.45717610A>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000049633.2, |
[PMID 9717837] Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
[PMID 10677297
] Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
