Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
POLG
G 0.720 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994099
rs113994099
POLG
C 0.710 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1555745989
rs1555745989
ATP5F1D
G 0.710 CausalMutation CLINVAR Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation. 29478781

2018
dbSNP: rs1023075742
rs1023075742
NDUFA6 ; SMDT1 ; NDUFA6-DT
T 0.700 CausalMutation CLINVAR

dbSNP: rs111033573
rs111033573
TWNK ; MRPL43
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs111033577
rs111033577
TWNK ; MRPL43
C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
C 0.700 CausalMutation CLINVAR

dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994096
rs113994096
POLG
A 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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
G 0.700 CausalMutation CLINVAR

dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918054
rs121918054
POLG
G 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1365700579
rs1365700579
YARS2
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs144972972
rs144972972
RMND1
C 0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952

2016
dbSNP: rs1553877864
rs1553877864
OPA1
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1554042187
rs1554042187
GFM2
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: rs1554887028
rs1554887028
TWNK ; MRPL43
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
A 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1554887213
rs1554887213
TWNK
T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs1554887222
rs1554887222
TWNK
C 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017