Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. | 30236074 | 2018 |
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|
G | 0.700 | CausalMutation | CLINVAR | CO2-sensitive tRNA modification associated with human mitochondrial disease. | 29760464 | 2018 |
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|
C | 0.700 | GeneticVariation | GWASCAT | Genetic data and cognitively defined late-onset Alzheimer's disease subgroups. | 30514930 | 2018 |
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|
A | 0.700 | GeneticVariation | GWASCAT | Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. | 29724592 | 2018 |
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|
G | 0.700 | CausalMutation | CLINVAR | New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. | 22638997 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mitochondrial disorder associated with newborn cardiopulmonary arrest. | 8511015 | 1993 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |