mitopathos |
[{'allele': '11467G', 'position': 11467, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND4'], 'diseases': ['Altered brain pH / sCJD patients']}, {'allele': '12300A', 'position': 12300, 'status': 'Reported', 'homoplasmy': '-', 'heteroplasmy': '+', 'locus': ['MT-TL2'], 'diseases': ['3243 suppressor mutant']}, {'allele': '12308G', 'position': 12308, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-TL2'], 'diseases': ['CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD']}, {'allele': '14258A', 'position': 14258, 'status': 'Reported: individually neutral variants causing LHON in combination', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND6'], 'diseases': ['LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G']}, {'allele': '15024A', 'position': 15024, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CYB'], 'diseases': ['Possible DEAF modifier']}, {'allele': '150T', 'position': 150, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-CR'], 'diseases': ['Longevity / Cervical Carcinoma / HPV infection risk']}, {'allele': '15153A', 'position': 15153, 'status': 'Reported', 'homoplasmy': '-', 'heteroplasmy': '+', 'locus': ['MT-CYB'], 'diseases': ['Suspected mito disease']}, {'allele': '3010A', 'position': 3010, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-RNR2'], 'diseases': ['Cyclic Vomiting Syndrome with Migraine / high altitude disease risk factor']}, {'allele': '3460A', 'position': 3460, 'status': 'Cfrm', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-ND1'], 'diseases': ['LHON']}]
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