| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. | 23063622 | 2012 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. | 27038030 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. | 24103480 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. | 24103480 | 2014 | ||||||
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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 | CausalMutation | CLINVAR | Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. | 19052914 | 2008 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Loss of function mutations in conserved regions of the human arginase I gene. | 8902193 | 1996 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Molecular genetic study of human arginase deficiency. | 1598908 | 1992 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects. | 18957279 | 2009 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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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 | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Five novel mutations in ARG1 gene in Chinese patients of argininemia. | 23859858 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | 22959135 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Molecular basis of phenotypic variation in patients with argininemia. | 7649538 | 1995 | |||||||
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0.710 | GeneticVariation | BEFREE | Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. | 10502833 | 1999 | |||||||
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T | 0.710 | CausalMutation | CLINVAR | Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. | 10502833 | 1999 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? | 21802329 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | GeneticVariation | CLINVAR | Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. | 27038030 | 2016 | ||||||
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A | 0.800 | GeneticVariation | CLINVAR | Loss of function mutations in conserved regions of the human arginase I gene. | 8902193 | 1996 | ||||||
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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 |