GARS
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | glycyl-tRNA synthetase |
| EntrezGene | 2617 |
| PheGenI | 2617 |
| VariationViewer | 2617 |
| ClinVar | GARS |
| GeneCards | GARS |
| dbSNP | 2617 |
| Diseases | GARS |
| SADR | 2617 |
| HugeNav | 2617 |
| wikipedia | GARS |
| GARS | |
| gopubmed | GARS |
| EVS | GARS |
| HEFalMp | GARS |
| MyGene2 | GARS |
| 23andMe | GARS |
| UniProt | P41250 |
| Ensembl | ENSG00000106105 |
| OMIM | 600287 |
| # SNPs | 15 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1049402 | 0 | 30,595,045 | |
| rs1060502838 | 0 | 30,621,448 | |
| rs1064795123 | 0 | 30,609,724 | |
| rs137852643 | 0 | 30,609,729 | |
| rs137852644 | 0 | 30,601,179 | |
| rs137852645 | 0 | 30,599,996 | |
| rs137852646 | 0 | 30,628,598 | |
| rs137852647 | 0 | 30,626,280 | |
| rs137852648 | 0 | 30,612,107 | |
| rs201358272 | 0 | 30,632,247 | |
| rs28936972 | 0 | 30,599,996 | |
| rs28937322 | 0 | 30,649,345 | |
| rs28937323 | 0 | 53,628,766 | |
| rs797044855 | 0 | 30,599,995 | |
| rs863224873 | 0 | 30,612,212 |
Mutations in the GARS gene have been associated with Charcot-Marie-Tooth disease type 2D (CMT2D) or in patients with distal hereditary motor neuropathy type V, a progressive disorder that, similar to CMT, affects nerve cells resulting in muscle weakness. More recently, a mutation in the GARS gene has been associated with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT).[PMID 30394614]
