| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption. | 30523278 | 2018 | |||||||
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0.800 | GeneticVariation | UNIPROT | Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. | 29402915 | 2018 | |||||||
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0.800 | GeneticVariation | UNIPROT | Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. | 26040326 | 2015 | |||||||
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0.800 | GeneticVariation | UNIPROT | Imerslund-Gräsbeck syndrome: new mutation in amnionless. | 22631584 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 22929189 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. | 12590260 | 2003 | |||||||
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T | 0.800 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 22929189 | 2012 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. | 22929189 | 2012 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. | 12590260 | 2003 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. | 12590260 | 2003 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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ACT | 0.700 | CausalMutation | CLINVAR | |||||||||
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ACT | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 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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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR |