Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs41518645
rs41518645
CYTB ; ND6
CUI: C0002871
Disease: Anemia
Anemia 		0.010 GeneticVariation BEFREE Non-synonymous substitutions (F33 L and D171N) and Indel mutations were observed for Cytochrome B gene, leading to a truncated protein, where anemia, malfunctioning of most of the vital organs as liver, kidney and mineral status was observed and debility with exercise intolerance and cardiomyopathy in extreme cases were depicted. 30660753

2019
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
CUI: C0456909
Disease: Blindness
Blindness 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 GeneticVariation BEFREE We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. 25925750

2015
dbSNP: rs41518645
rs41518645
CYTB ; ND6
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation BEFREE Non-synonymous substitutions (F33 L and D171N) and Indel mutations were observed for Cytochrome B gene, leading to a truncated protein, where anemia, malfunctioning of most of the vital organs as liver, kidney and mineral status was observed and debility with exercise intolerance and cardiomyopathy in extreme cases were depicted. 30660753

2019
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs207459996
rs207459996
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs207459996
rs207459996
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs207459995
rs207459995
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT

dbSNP: rs879192165
rs879192165
CYTB ; ND6 ; TRNE
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
CUI: C0013362
Disease: Dysarthria
Dysarthria 		G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016