mitopathos |
[{'allele': '10398G', 'position': 10398, 'status': 'Reported / lineage L & M marker / also hg IJK', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND3'], 'diseases': ['PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy']}, {'allele': '11696A', 'position': 11696, 'status': 'Reported - possibly synergistic', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-ND4'], 'diseases': ['LHON / LDYT / DEAF / hypertension helper mut.']}, {'allele': '12705T', 'position': 12705, 'status': 'Reported', 'homoplasmy': '<NA>', 'heteroplasmy': '<NA>', 'locus': ['MT-CO1'], 'diseases': ['Possible protective factor for normal tension glaucoma']}, {'allele': '14668T', 'position': 14668, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND6'], 'diseases': ['Depressive Disorder associated']}, {'allele': '15043A', 'position': 15043, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CYB'], 'diseases': ['MDD-associated']}, {'allele': '3010A', 'position': 3010, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-RNR2'], 'diseases': ['Cyclic Vomiting Syndrome with Migraine / high altitude disease risk factor']}, {'allele': '310C', 'position': 310, 'status': 'Reported', 'homoplasmy': '<NA>', 'heteroplasmy': '<NA>', 'locus': ['MT-CR'], 'diseases': ['Possible protective factor for normal tension glaucoma']}, {'allele': '4883T', 'position': 4883, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND2'], 'diseases': ['Glaucoma']}, {'allele': '489C', 'position': 489, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '5650A', 'position': 5650, 'status': 'Cfrm', 'homoplasmy': '-', 'heteroplasmy': '+', 'locus': ['MT-TA'], 'diseases': ['Myopathy']}, {'allele': '8414T', 'position': 8414, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ATP8'], 'diseases': ['Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity']}]
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