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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2017 2017
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 1.000 1 2001 2001
Behr syndrome
CUI: C0221061
Disease: Behr syndrome
5 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 0
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
22 0.882 0.320 3 193667168 splice region variant TTAG/- delins 0.700 0