rs398124303, OPA1

N. diseases: 2
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 0.925 0.160 3 193638064 missense variant A/C;G snv 4.0E-06 0.710 1.000 2 2013 2015
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
14 0.925 0.160 3 193638064 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2015 2015