rs74315464
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs74315464(C;G) |
| Make rs74315464(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50627048 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315464 |
| dbSNP (classic) | rs74315464 |
| ClinGen | rs74315464 |
| ebi | rs74315464 |
| HLI | rs74315464 |
| Exac | rs74315464 |
| Gnomad | rs74315464 |
| Varsome | rs74315464 |
| LitVar | rs74315464 |
| Map | rs74315464 |
| PheGenI | rs74315464 |
| Biobank | rs74315464 |
| 1000 genomes | rs74315464 |
| hgdp | rs74315464 |
| ensembl | rs74315464 |
| geneview | rs74315464 |
| scholar | rs74315464 |
| rs74315464 | |
| pharmgkb | rs74315464 |
| gwascentral | rs74315464 |
| openSNP | rs74315464 |
| 23andMe | rs74315464 |
| SNPshot | rs74315464 |
| SNPdbe | rs74315464 |
| MSV3d | rs74315464 |
| GWAS Ctlg | rs74315464 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315464(G;G) rs74315464(T;T) |
| Alt | rs74315464(G;G) rs74315464(T;T) |
| Reference | Rs74315464(C;C) |
| Significance | Pathogenic |
| Disease | not provided Arylsulfatase A pseudodeficiency |
| Variation | info |
| Gene | ARSA |
| CLNDBN | not provided Arylsulfatase A pseudodeficiency |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51065476G>A; NC_000022.10:g.51065476G>C |
| CLNSRC | UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000058968.1, RCV000003213.3, |
[PMID 14517960] Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
