rs743616
From SNPedia
| Lysosomal Storage Disease May be neurodegenerative. May have low or reference range levels of arylsulfatase A in the serum, but sulfatide is not stored. Possible Multiple sulfatase deficiency |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs743616(C;C) |
| Make rs743616(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50625611 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs743616 |
| dbSNP (classic) | rs743616 |
| ClinGen | rs743616 |
| ebi | rs743616 |
| HLI | rs743616 |
| Exac | rs743616 |
| Gnomad | rs743616 |
| Varsome | rs743616 |
| LitVar | rs743616 |
| Map | rs743616 |
| PheGenI | rs743616 |
| Biobank | rs743616 |
| 1000 genomes | rs743616 |
| hgdp | rs743616 |
| ensembl | rs743616 |
| geneview | rs743616 |
| scholar | rs743616 |
| rs743616 | |
| pharmgkb | rs743616 |
| gwascentral | rs743616 |
| openSNP | rs743616 |
| 23andMe | rs743616 |
| SNPshot | rs743616 |
| SNPdbe | rs743616 |
| MSV3d | rs743616 |
| GWAS Ctlg | rs743616 |
| GMAF | 0.4261 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs743616(C;C) |
| Alt | rs743616(C;C) |
| Reference | Rs743616(G;G) |
| Significance | Non-pathogenic |
| Disease | Metachromatic leukodystrophy not specified |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.51064039G>C |
| CLNSRC | HGMD |
| CLNACC | RCV000020311.2, RCV000078937.5, |
[PMID 18454203
] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
