Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554887222
rs1554887222
TWNK
C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs28937887
rs28937887
TWNK ; MRPL43
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs369227537
rs369227537
SPG7
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs370475970
rs370475970
GFER ; NOXO1
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs387906899
rs387906899
OPA1
G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs398124298
rs398124298
OPA1 ; LOC102724808
G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs515726180
rs515726180
RRM2B ; UBR5-AS1
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs515726199
rs515726199
RRM2B
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs746538436
rs746538436
GFM2
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
GFM2
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
dbSNP: rs775256289
rs775256289
YARS2
ACTCCTGATCAGACATGAC 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs797046003
rs797046003
SPG7
CT 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs80356529
rs80356529
OPA1
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs80356530
rs80356530
OPA1 ; LOC102724808
C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs863224028
rs863224028
GFER ; NOXO1
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs115079861
rs115079861
RMND1
G 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs144972972
rs144972972
RMND1
C 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs199730889
rs199730889
TRMT10C
T 0.700 CausalMutation CLINVAR Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 27132592

2016
dbSNP: rs370863743
rs370863743
RMND1
T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs397515421
rs397515421
RMND1
T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs771894262
rs771894262
RMND1
T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs773470671
rs773470671
RMND1
T 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs875989831
rs875989831
TRMT10C
G 0.700 CausalMutation CLINVAR Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 27132592

2016
dbSNP: rs886037771
rs886037771
RMND1
A 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs886037772
rs886037772
RMND1
A 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016