rs1421865028, TXNRD1

N. diseases: 1
Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
0.010 GeneticVariation BEFREE In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. 25194554 2014