rs387906496
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7.7 | X-linked adrenoleukodystrophy; symptoms and age of onset highly variable |
| (-;GAG) | 4.4 | Carrier of of X-linked adrenoleukodystrophy mutation; AMN symptoms possible |
| (GAG;GAG) | 0 | common in clinvar |
| (GGA;GGA) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 153726137 |
| Gene | ABCD1, BCAP31 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906496 |
| dbSNP (classic) | rs387906496 |
| ClinGen | rs387906496 |
| ebi | rs387906496 |
| HLI | rs387906496 |
| Exac | rs387906496 |
| Gnomad | rs387906496 |
| Varsome | rs387906496 |
| LitVar | rs387906496 |
| Map | rs387906496 |
| PheGenI | rs387906496 |
| Biobank | rs387906496 |
| 1000 genomes | rs387906496 |
| hgdp | rs387906496 |
| ensembl | rs387906496 |
| geneview | rs387906496 |
| scholar | rs387906496 |
| rs387906496 | |
| pharmgkb | rs387906496 |
| gwascentral | rs387906496 |
| openSNP | rs387906496 |
| 23andMe | rs387906496 |
| SNPshot | rs387906496 |
| SNPdbe | rs387906496 |
| MSV3d | rs387906496 |
| GWAS Ctlg | rs387906496 |
| Max Magnitude | 7.7 |
c.871_873delGAG (p.Glu292del)
| ClinVar | |
|---|---|
| Risk | Rs387906496(-;-) |
| Alt | Rs387906496(-;-) |
| Reference | Rs387906496(GGA;GGA) |
| Significance | Pathogenic |
| Disease | Adrenoleukodystrophy |
| Variation | info |
| Gene | BCAP31 ABCD1 |
| CLNDBN | Adrenoleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000023.10:g.152991592_152991594delGAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012066.10, |
