RARS1, arginyl-tRNA synthetase 1, 5917
N. diseases: 94; N. variants: 9
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.800 | CausalMutation | CLINVAR | Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. | 28905880 | 2017 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RARS cause hypomyelination. | 24777941 | 2014 | |||||||
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A | 0.800 | GeneticVariation | CLINVAR | Mutations in RARS cause hypomyelination. | 24777941 | 2014 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | Mutations in RARS cause hypomyelination. | 24777941 | 2014 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in RARS cause hypomyelination. | 24777941 | 2014 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |