Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138350727
rs138350727
OPA1 ; OPA1-AS1
0.010 GeneticVariation BEFREE A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. 18360822

2008
dbSNP: rs11258194
rs11258194
OPTN
0.010 GeneticVariation BEFREE The role of the Met98Lys optineurin variant in inherited optic nerve diseases. 16885188

2006