Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal mitochondria in muscle tissue
2 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Chronic progressive external ophthalmoplegia
13 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Dysphonia
CUI: C1527344
Disease: Dysphonia
4 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Neuromuscular dysphagia
CUI: C4025729
Disease: Neuromuscular dysphagia
2 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Sensorineural hearing loss, bilateral
30 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 1 2017 2017
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
18 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 12 2001 2011