rs74315484
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74315484(G;T) |
| Make rs74315484(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50626228 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315484 |
| dbSNP (classic) | rs74315484 |
| ClinGen | rs74315484 |
| ebi | rs74315484 |
| HLI | rs74315484 |
| Exac | rs74315484 |
| Gnomad | rs74315484 |
| Varsome | rs74315484 |
| LitVar | rs74315484 |
| Map | rs74315484 |
| PheGenI | rs74315484 |
| Biobank | rs74315484 |
| 1000 genomes | rs74315484 |
| hgdp | rs74315484 |
| ensembl | rs74315484 |
| geneview | rs74315484 |
| scholar | rs74315484 |
| rs74315484 | |
| pharmgkb | rs74315484 |
| gwascentral | rs74315484 |
| openSNP | rs74315484 |
| 23andMe | rs74315484 |
| SNPshot | rs74315484 |
| SNPdbe | rs74315484 |
| MSV3d | rs74315484 |
| GWAS Ctlg | rs74315484 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315484(T;T) |
| Alt | rs74315484(T;T) |
| Reference | Rs74315484(G;G) |
| Significance | Pathogenic |
| Disease | Metachromatic leukodystrophy not provided |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy, late infantile not provided |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51064656C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
| CLNACC | RCV000003239.3, RCV000058989.1, |
[PMID 10220151] Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
