| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.710 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 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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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. | 9731540 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | A novel CRYAB mutation resulting in multisystemic disease. | 21920752 | 2012 | |||||||
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C | 0.700 | GeneticVariation | CLINVAR | A novel CRYAB mutation resulting in multisystemic disease. | 21920752 | 2012 | ||||||
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0.010 | GeneticVariation | BEFREE | Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study. | 30942895 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study. | 30942895 | 2019 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alpha B-crystallin mutation in dilated cardiomyopathy. | 16483541 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. | 16793013 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alteration of protein-protein interactions of congenital cataract crystallin mutants. | 12601044 | 2003 |