rs121908375, OPA1

N. diseases: 3
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.
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.882 0.160 3 193637280 missense variant G/A snv 0.710 1.000 21 2000 2013
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 0.160 3 193637280 missense variant G/A snv 0.700 0
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
14 0.882 0.160 3 193637280 missense variant G/A snv 0.010 1.000 1 2013 2013