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.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
18 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.700 1.000 4 2007 2013
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013
Chronic progressive external ophthalmoplegia
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
13 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013
Ocular muscular dystrophy
CUI: C0270951
Disease: Ocular muscular dystrophy
1 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013