rs794727904
From SNPedia
| Merged into | rs80338823 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GCAGCTGTGAC;GCAGCTGTGAC) | 0 | common in clinvar |
| Make rs794727904(-;-) |
| Make rs794727904(-;GCAGCTGTGAC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50625257 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727904 |
| dbSNP (classic) | rs794727904 |
| ClinGen | rs794727904 |
| ebi | rs794727904 |
| HLI | rs794727904 |
| Exac | rs794727904 |
| Gnomad | rs794727904 |
| Varsome | rs794727904 |
| LitVar | rs794727904 |
| Map | rs794727904 |
| PheGenI | rs794727904 |
| Biobank | rs794727904 |
| 1000 genomes | rs794727904 |
| hgdp | rs794727904 |
| ensembl | rs794727904 |
| geneview | rs794727904 |
| scholar | rs794727904 |
| rs794727904 | |
| pharmgkb | rs794727904 |
| gwascentral | rs794727904 |
| openSNP | rs794727904 |
| 23andMe | rs794727904 |
| SNPshot | rs794727904 |
| SNPdbe | rs794727904 |
| MSV3d | rs794727904 |
| GWAS Ctlg | rs794727904 |
| Status | Merged into rs80338823 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs794727904(GCAGCTGTGAC;GCAGCTGTGAC) |
| Significance | Pathogenic |
| Disease | Metachromatic leukodystrophy |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51063685_51063695delGTCACAGCTGC |
| CLNSRC | |
| CLNACC | RCV000180166.2, |
