| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | GeneticVariation | GWASDB | Genome-wide association analysis identifies 13 new risk loci for schizophrenia. | 23974872 | 2013 | ||||||
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A | 0.800 | GeneticVariation | GWASCAT | Genome-wide association analysis identifies 13 new risk loci for schizophrenia. | 23974872 | 2013 | ||||||
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T | 0.700 | GeneticVariation | GWASCAT | Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. | 30038396 | 2018 | ||||||
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0.700 | GeneticVariation | GWASCAT | Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. | 30013184 | 2018 | |||||||
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T | 0.700 | GeneticVariation | GWASCAT | Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology. | 29083406 | 2017 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. | 27858754 | 2015 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. | 27858754 | 2015 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. | 24284555 | 2014 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. | 24284555 | 2014 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||||
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T | 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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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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TATCC | 0.700 | CausalMutation | CLINVAR | |||||||||
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TATCC | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. | 25995486 | 2016 |