Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. 15372523

2004
dbSNP: rs113994097
rs113994097
POLG
0.720 GeneticVariation BEFREE Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs2307441
rs2307441
POLG
0.020 GeneticVariation BEFREE Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994099
rs113994099
POLG
0.710 GeneticVariation BEFREE A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects. 17310215

2007
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
0.010 GeneticVariation BEFREE Our aim was to assess whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder. 18386115

2008
dbSNP: rs368849022
rs368849022
TXNRD1
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599

2010
dbSNP: rs387907087
rs387907087
FOXRED1
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599

2010
dbSNP: rs542343726
rs542343726
BRCA2
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599

2010
dbSNP: rs571825723
rs571825723
PSEN1
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599

2010
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997

2012
dbSNP: rs113994097
rs113994097
POLG
0.720 GeneticVariation BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042

2012
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
0.010 GeneticVariation BEFREE Because of multisystem involvement, mitochondrial disease was suspected and the mutational analysis of the BCS1L gene revealed homozygous P99L mutation. 23892085

2013
dbSNP: rs1003624852
rs1003624852
CYC1
0.010 GeneticVariation BEFREE G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b. 26245902

2015
dbSNP: rs207460001
rs207460001
CYTB ; ND6
0.010 GeneticVariation BEFREE G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b. 26245902

2015
dbSNP: rs2307441
rs2307441
POLG
0.020 GeneticVariation BEFREE We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population. 26468652

2015
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: 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: rs886037835
rs886037835
TMEM126B
T 0.700 CausalMutation CLINVAR Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants. 27374774

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

2016