rs104894552
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | Carrier of a Canavan disease mutation |
| (T;T) | 8 | Canavan disease (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 3498892 |
| Gene | ASPA, SPATA22 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894552 |
| dbSNP (classic) | rs104894552 |
| ClinGen | rs104894552 |
| ebi | rs104894552 |
| HLI | rs104894552 |
| Exac | rs104894552 |
| Gnomad | rs104894552 |
| Varsome | rs104894552 |
| LitVar | rs104894552 |
| Map | rs104894552 |
| PheGenI | rs104894552 |
| Biobank | rs104894552 |
| 1000 genomes | rs104894552 |
| hgdp | rs104894552 |
| ensembl | rs104894552 |
| geneview | rs104894552 |
| scholar | rs104894552 |
| rs104894552 | |
| pharmgkb | rs104894552 |
| gwascentral | rs104894552 |
| openSNP | rs104894552 |
| 23andMe | rs104894552 |
| SNPshot | rs104894552 |
| SNPdbe | rs104894552 |
| MSV3d | rs104894552 |
| GWAS Ctlg | rs104894552 |
| Max Magnitude | 8 |
ASPA gene variant:c.746A>T, p.Asp249Val, D249V
23andMe name: i5006787
| ClinVar | |
|---|---|
| Risk | Rs104894552(T;T) |
| Alt | Rs104894552(T;T) |
| Reference | Rs104894552(A;A) |
| Significance | Other |
| Disease | Spongy degeneration of central nervous system |
| Variation | info |
| Gene | ASPA SPATA22 |
| CLNDBN | Spongy degeneration of central nervous system |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3402186A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002733.2, |
