Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.810 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GAAGA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | 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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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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AT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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CG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.810 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
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0.800 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
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0.800 | GeneticVariation | UNIPROT | Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. | 1463019 | 1992 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular genetic study of human arginase deficiency. | 1598908 | 1992 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Molecular genetic study of human arginase deficiency. | 1598908 | 1992 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. | 7981719 | 1994 | ||||||
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0.810 | GeneticVariation | UNIPROT | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 |