CYTB, cytochrome b, 4519
N. diseases: 166; N. variants: 83
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.810 | CausalMutation | CLINVAR | |||||||||
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 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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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.810 | GeneticVariation | BEFREE | A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. | 12112086 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. | 1900003 | 1991 | |||||||
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0.800 | GeneticVariation | UNIPROT | Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. | 1900003 | 1991 | |||||||
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0.700 | GeneticVariation | UNIPROT | Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. | 1900003 | 1991 | |||||||
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0.810 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 | |||||||
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0.810 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 | |||||||
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0.800 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 | |||||||
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0.800 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 | |||||||
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0.700 | GeneticVariation | UNIPROT | An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. | 1417830 | 1992 | |||||||
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0.810 | GeneticVariation | BEFREE | Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. | 10072046 | 1999 | |||||||
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0.810 | GeneticVariation | UNIPROT | Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. | 9452107 | 1998 | |||||||
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0.810 | GeneticVariation | UNIPROT | Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. | 9452107 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. | 9452107 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. | 9452107 | 1998 |