Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554042187
rs1554042187
G 0.700 CausalMutation CLINVAR Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935

2017

dbSNP: rs746538436
rs746538436
C 0.700 CausalMutation CLINVAR Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935

2017

dbSNP: rs761283105
rs761283105
T 0.700 CausalMutation CLINVAR Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935

2017