rs151103940, OPA1

N. diseases: 3
Disease: Optic Atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.010 GeneticVariation BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400 2011