| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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CAGGGTACTCGCTGGAGGCCAGGG | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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AC | 0.700 | CausalMutation | CLINVAR | |||||||||
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AC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GGC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. | 9546354 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. | 9892956 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). | 9422533 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. | 9792864 | 1998 | |||||||
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T | 0.810 | CausalMutation | CLINVAR | A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). | 10521295 | 1999 | ||||||
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0.810 | GeneticVariation | UNIPROT | A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). | 10521295 | 1999 | |||||||
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0.810 | GeneticVariation | UNIPROT | A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). | 10521295 | 1999 |