rs193922097
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 38.1/141 |
| Chromosome | X |
| Position | 153725687 |
| Gene | ABCD1, BCAP31 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922097 |
| dbSNP (classic) | rs193922097 |
| ClinGen | rs193922097 |
| ebi | rs193922097 |
| HLI | rs193922097 |
| Exac | rs193922097 |
| Gnomad | rs193922097 |
| Varsome | rs193922097 |
| LitVar | rs193922097 |
| Map | rs193922097 |
| PheGenI | rs193922097 |
| Biobank | rs193922097 |
| 1000 genomes | rs193922097 |
| hgdp | rs193922097 |
| ensembl | rs193922097 |
| geneview | rs193922097 |
| scholar | rs193922097 |
| rs193922097 | |
| pharmgkb | rs193922097 |
| gwascentral | rs193922097 |
| openSNP | rs193922097 |
| 23andMe | rs193922097 |
| SNPshot | rs193922097 |
| SNPdbe | rs193922097 |
| MSV3d | rs193922097 |
| GWAS Ctlg | rs193922097 |
| Max Magnitude | 7.7 |
| ClinVar | |
|---|---|
| Risk | Rs193922097(A;A) |
| Alt | Rs193922097(A;A) |
| Reference | Rs193922097(G;G) |
| Significance | Pathogenic |
| Disease | Adrenoleukodystrophy |
| Variation | info |
| Gene | BCAP31 ABCD1 |
| CLNDBN | Adrenoleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000023.10:g.152991142G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000029289.4, |
[PMID 7581394] Mutational analysis of patients with X-linked adrenoleukodystrophy.
[PMID 17504626] [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
[PMID 21068741] X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
[PMID 21300044] Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.
