| 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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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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0.700 | GeneticVariation | UNIPROT | ||||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
0.800 | GeneticVariation | UNIPROT | A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. | 25361962 | 2015 | |||||||
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T | 0.700 | GeneticVariation | GWASCAT | Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. | 26785701 | 2016 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. | 27208211 | 2016 |