rs121908375, OPA1

N. diseases: 3
Disease: Dominant hereditary optic atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dominant hereditary optic atrophy
CUI: C4551508
Disease: Dominant hereditary optic atrophy
0.010 GeneticVariation BEFREE To assess the association between retinal nerve fiber layer (RNFL) thickness and visual acuity in a family from Siracusa (Sicily) with autosomal dominant optic atrophy (ADOA) due to a heterozygous c.869G>A OPA1 mutation. 22779427 2013