rs397514477, C19orf12

N. diseases: 5
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 We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes. 30088953 2018