HPRT1, hypoxanthine phosphoribosyltransferase 1, 3251
N. diseases: 210; N. variants: 42
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 | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. | 6572373 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine-guanine phosphoribosyltransferase. | 6853490 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine-guanine phosphoribosyltransferase. | 6853490 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. | 6572373 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine-guanine phosphoribosyltransferase. | 6853490 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. | 6572373 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine-guanine phosphoribosyltransferase. | 6853490 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. | 6572373 | 1983 | |||||||
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0.800 | GeneticVariation | UNIPROT | Human hypoxanthine-guanine phosphoribosyltransferase. | 6853490 | 1983 |