rs150346282
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
| (A;G) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 153743031 |
| Gene | ABCD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150346282 |
| dbSNP (classic) | rs150346282 |
| ClinGen | rs150346282 |
| ebi | rs150346282 |
| HLI | rs150346282 |
| Exac | rs150346282 |
| Gnomad | rs150346282 |
| Varsome | rs150346282 |
| LitVar | rs150346282 |
| Map | rs150346282 |
| PheGenI | rs150346282 |
| Biobank | rs150346282 |
| 1000 genomes | rs150346282 |
| hgdp | rs150346282 |
| ensembl | rs150346282 |
| geneview | rs150346282 |
| scholar | rs150346282 |
| rs150346282 | |
| pharmgkb | rs150346282 |
| gwascentral | rs150346282 |
| openSNP | rs150346282 |
| 23andMe | rs150346282 |
| SNPshot | rs150346282 |
| SNPdbe | rs150346282 |
| MSV3d | rs150346282 |
| GWAS Ctlg | rs150346282 |
| Max Magnitude | 7.7 |
| ClinVar | |
|---|---|
| Risk | Rs150346282(A;A) |
| Alt | Rs150346282(A;A) |
| Reference | Rs150346282(G;G) |
| Significance | Pathogenic |
| Disease | Adrenoleukodystrophy |
| Variation | info |
| Gene | ABCD1 |
| CLNDBN | Adrenoleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153008485G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000152721.3, |
