rs151103940, 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
CUI: C0029124
Disease: Optic Atrophy
51 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011
Optic Atrophy 1
CUI: C0338508
Disease: Optic Atrophy 1
45 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.700 1.000 20 2000 2013
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011