Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143747297
rs143747297
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.800 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
dbSNP: rs143747297
rs143747297
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.800 CausalMutation CLINVAR MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. 23929671 2013
dbSNP: rs143747297
rs143747297
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.800 GeneticVariation UNIPROT Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
dbSNP: rs143747297
rs143747297
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.800 CausalMutation CLINVAR Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
dbSNP: rs201544686
rs201544686
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.700 GeneticVariation CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775 2018
dbSNP: rs201544686
rs201544686
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.700 GeneticVariation CLINVAR The genotypic and phenotypic spectrum of MTO1 deficiency. 29331171 2018
dbSNP: rs201544686
rs201544686
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.700 GeneticVariation CLINVAR MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. 23929671 2013
dbSNP: rs1033653237
rs1033653237
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499776
rs1060499776
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1275100093
rs1275100093
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554148965
rs1554148965
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1561954433
rs1561954433
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201544686
rs201544686
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.700 CausalMutation CLINVAR
dbSNP: rs371179032
rs371179032
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397518449
rs397518449
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs398122419
rs398122419
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs746382157
rs746382157
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C4021085
Disease:
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs748152539
rs748152539
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C3553529
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1176235580
rs1176235580
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. 12939650 2003
dbSNP: rs1176235580
rs1176235580
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The chromosomal region around marker D8S277 is thought to contribute to susceptibility to hearing impairment in patients with the 1555A>G mutation in mtDNA. 12939650 2003
dbSNP: rs1176235580
rs1176235580
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C0948444
Disease:
Mitochondrial DNA mutation 		0.010 GeneticVariation BEFREE Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. 12939650 2003
dbSNP: rs139449947
rs139449947
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE The chromosomal region around marker D8S277 is thought to contribute to susceptibility to hearing impairment in patients with the 1555A>G mutation in mtDNA. 12939650 2003
dbSNP: rs139449947
rs139449947
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. 12939650 2003
dbSNP: rs139449947
rs139449947
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
CUI: C0948444
Disease:
Mitochondrial DNA mutation 		0.010 GeneticVariation BEFREE Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. 12939650 2003