Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356523
rs80356523
OPA3
G 0.700 CausalMutation CLINVAR Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 26190011

2015
dbSNP: rs80356523
rs80356523
OPA3
G 0.700 CausalMutation CLINVAR Costeff syndrome: clinical features and natural history. 25201222

2014
dbSNP: rs80356523
rs80356523
OPA3
G 0.700 CausalMutation CLINVAR Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 11668429

2001