rs1131691743
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
| (A;C) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
| (C;C) | 0 | common/normal |
| (C;T) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
| (T;T) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | X |
| Position | 153726027 |
| Gene | ABCD1, BCAP31 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1131691743 |
| dbSNP (classic) | rs1131691743 |
| ClinGen | rs1131691743 |
| ebi | rs1131691743 |
| HLI | rs1131691743 |
| Exac | rs1131691743 |
| Gnomad | rs1131691743 |
| Varsome | rs1131691743 |
| LitVar | rs1131691743 |
| Map | rs1131691743 |
| PheGenI | rs1131691743 |
| Biobank | rs1131691743 |
| 1000 genomes | rs1131691743 |
| hgdp | rs1131691743 |
| ensembl | rs1131691743 |
| geneview | rs1131691743 |
| scholar | rs1131691743 |
| rs1131691743 | |
| pharmgkb | rs1131691743 |
| gwascentral | rs1131691743 |
| openSNP | rs1131691743 |
| 23andMe | rs1131691743 |
| SNPshot | rs1131691743 |
| SNPdbe | rs1131691743 |
| MSV3d | rs1131691743 |
| GWAS Ctlg | rs1131691743 |
| Max Magnitude | 7.7 |
aka c.761C>T (p.Thr254Met) and c.761C>A (p.Thr254Lys), both of which are pathogenic for adrenoleukodystrophy according to the ALD Mutation Database
