rs193922098
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (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 38.1/141 |
| Chromosome | X |
| Position | 153726104 |
| Gene | ABCD1, BCAP31 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922098 |
| dbSNP (classic) | rs193922098 |
| ClinGen | rs193922098 |
| ebi | rs193922098 |
| HLI | rs193922098 |
| Exac | rs193922098 |
| Gnomad | rs193922098 |
| Varsome | rs193922098 |
| LitVar | rs193922098 |
| Map | rs193922098 |
| PheGenI | rs193922098 |
| Biobank | rs193922098 |
| 1000 genomes | rs193922098 |
| hgdp | rs193922098 |
| ensembl | rs193922098 |
| geneview | rs193922098 |
| scholar | rs193922098 |
| rs193922098 | |
| pharmgkb | rs193922098 |
| gwascentral | rs193922098 |
| openSNP | rs193922098 |
| 23andMe | rs193922098 |
| SNPshot | rs193922098 |
| SNPdbe | rs193922098 |
| MSV3d | rs193922098 |
| GWAS Ctlg | rs193922098 |
| Max Magnitude | 7.7 |
| ClinVar | |
|---|---|
| Risk | rs193922098(A;A) Rs193922098(T;T) |
| Alt | rs193922098(A;A) Rs193922098(T;T) |
| Reference | Rs193922098(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Adrenoleukodystrophy |
| Variation | info |
| Gene | BCAP31 ABCD1 |
| CLNDBN | Adrenoleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000023.10:g.152991559C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029290.1, |
[PMID 11748843] ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
[PMID 15811009] X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
