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Denisova3
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HGE |
Upper Paleolithic |
Russia |
F |
-48000 |
-30000 |
L |
bam
|
<NA>
|
|
FASTA
Metadata
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10398G (MT-ND3): 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 (Reported / lineage L & M marker / also hg IJK)
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12311C (MT-TL2): CPEO (Reported)
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12372A (MT-ND5): Altered brain pH / sCJD patients (Reported)
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12477C (MT-ND5): possible HCM susceptibility (Reported)
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12705T (MT-CO1): Possible protective factor for normal tension glaucoma (Reported)
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13276G (MT-ND5): MIDD+retinopathy (Conflicting reports)
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13528G (MT-ND5): LHON-like / LHON / MELAS (Reported)
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14693G (MT-TE): MELAS / LHON / DEAF / hypertension helper (Reported)
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15043A (MT-CYB): MDD-associated (Reported)
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150T (MT-CR): Longevity / Cervical Carcinoma / HPV infection risk (Conflicting reports)
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16081G (MT-CR): Cyclic Vomiting Syndrome (Reported)
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16129A (MT-CR): Cyclic Vomiting Syndrome with Migraine (Reported)
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310C (MT-CR): Possible protective factor for normal tension glaucoma (Reported)
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3277A (MT-TL1): Poss. hypertension factor (Reported)
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3290C (MT-TL1): Poss. hypertension factor (Reported)
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3421A (MT-ND1): MIDD (Reported)
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3496T (MT-ND1): LHON (Reported / Secondary)
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4456T (MT-TM): Poss. hypertension factor (Reported)
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4659A (MT-ND2): possible PD risk factor / LHON (Reported)
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5821A (MT-TC): DEAF helper mut. (Reported)
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6150A (MT-CO1): Prostate Cancer / enriched in POAG cohort (Reported)
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7868T (MT-CO2): LHON (Possibly synergistic)
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827G (MT-RNR1): DEAF (Conflicting reports)
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8021G (MT-CO2): Asthenozoospermia (Reported)
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9966A (MT-CO3): LHON possible helper variant (Reported)
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