Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. 21538838

2011
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 16240368

2005
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 16158427

2005