| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.810 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | Molecular identification of a renal urate anion exchanger that regulates blood urate levels. | 12024214 | 2002 | |||||||
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A | 0.750 | CausalMutation | CLINVAR | Molecular identification of a renal urate anion exchanger that regulates blood urate levels. | 12024214 | 2002 | ||||||
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0.700 | GeneticVariation | UNIPROT | Molecular identification of a renal urate anion exchanger that regulates blood urate levels. | 12024214 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular identification of a renal urate anion exchanger that regulates blood urate levels. | 12024214 | 2002 | |||||||
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A | 0.750 | CausalMutation | CLINVAR | Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. | 14655203 | 2003 | ||||||
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A | 0.810 | CausalMutation | CLINVAR | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 | ||||||
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T | 0.800 | GeneticVariation | CLINVAR | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 | ||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 | |||||||
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0.700 | GeneticVariation | UNIPROT | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 | |||||||
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0.700 | GeneticVariation | UNIPROT | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 | |||||||
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0.750 | GeneticVariation | BEFREE | The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients. | 15054642 | 2004 | |||||||
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A | 0.750 | CausalMutation | CLINVAR | The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients. | 15054642 | 2004 | ||||||
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A | 0.810 | CausalMutation | CLINVAR | A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. | 15327384 | 2004 | ||||||
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0.800 | GeneticVariation | UNIPROT | A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. | 15327384 | 2004 | |||||||
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0.700 | GeneticVariation | UNIPROT | A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. | 15327384 | 2004 |