mitopathos |
[{'allele': '11251G', 'position': 11251, 'status': 'Reported', 'homoplasmy': 'nr', 'heteroplasmy': 'nr', 'locus': ['MT-ND4'], 'diseases': ['Reduced risk of PD']}, {'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': '13708A', 'position': 13708, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '+', 'locus': ['MT-ND5'], 'diseases': ['LHON / Increased MS risk / higher freq in PD-ADS']}, {'allele': '185A', 'position': 185, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '295T', 'position': 295, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'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': '3394C', 'position': 3394, 'status': 'Reported / Population-dependent', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND1'], 'diseases': ['LHON / Diabetes / CPTdeficiency / high altitude adaptation']}, {'allele': '4216C', 'position': 4216, 'status': 'Conflicting reports', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND1'], 'diseases': ['LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage']}, {'allele': '462T', 'position': 462, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '489C', 'position': 489, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}]
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