ychr_snps |
['R1:CTS2680:14424045C->T', 'R:L1347:22818334C->T', 'R:M613:7133986G->C', 'R1:L875:16742224A->G', 'R1:P286:17716251C->T', 'R:CTS2426:14300457G->A', 'R:CTS11647:23202551C->G', 'R:F82:7548900G->A', 'R:P285:19267344C->A', 'R1a:L62:17891241A->G', 'R1:CTS1913:14120054A->T', 'R1:P231:9989615A->G', 'R:CTS6417:16882568T->C', 'R:CTS7876:17722802G->A', 'R:CTS7880:17723850C->T', 'R:F295:15594523A->G', 'R1:CTS916:7084535G->A', 'R1:CTS4075:15377120A->G', 'R1:CTS7085:17275703G->A']
|
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': '228A', 'position': 228, 'status': 'Reported', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-CR'], 'diseases': ['Low VO2max response']}, {'allele': '3394C', 'position': 3394, 'status': 'Reported / Population-dependent', 'homoplasmy': '+', 'heteroplasmy': '-', 'locus': ['MT-ND1'], 'diseases': ['LHON / Diabetes / CPTdeficiency / high altitude adaptation']}, {'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']}]
|