rs386833672
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;A) | 3 | Carrier of a polyglandular autoimmune syndrome type 1 mutation |
| Make rs386833672(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 44293060 |
| Gene | AIRE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833672 |
| dbSNP (classic) | rs386833672 |
| ClinGen | rs386833672 |
| ebi | rs386833672 |
| HLI | rs386833672 |
| Exac | rs386833672 |
| Gnomad | rs386833672 |
| Varsome | rs386833672 |
| LitVar | rs386833672 |
| Map | rs386833672 |
| PheGenI | rs386833672 |
| Biobank | rs386833672 |
| 1000 genomes | rs386833672 |
| hgdp | rs386833672 |
| ensembl | rs386833672 |
| geneview | rs386833672 |
| scholar | rs386833672 |
| rs386833672 | |
| pharmgkb | rs386833672 |
| gwascentral | rs386833672 |
| openSNP | rs386833672 |
| 23andMe | rs386833672 |
| SNPshot | rs386833672 |
| SNPdbe | rs386833672 |
| MSV3d | rs386833672 |
| GWAS Ctlg | rs386833672 |
| Max Magnitude | 3 |
aka c.1163_1164insA (p.Met388Ilefs)
| ClinVar | |
|---|---|
| Risk | rs386833672(A;A) |
| Alt | rs386833672(A;A) |
| Reference | Rs386833672(-;-) |
| Significance | Other |
| Disease | Polyglandular autoimmune syndrome |
| Variation | info |
| Gene | AIRE |
| CLNDBN | Polyglandular autoimmune syndrome, type 1 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.45712943_45712944insA |
| CLNSRC | ClinVar |
| CLNACC | RCV000049632.1, |
[PMID 9398840] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
