|
rs199474826
|
ATP6;ATP8;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs199474827
|
ATP6;ATP8;COX1;COX2;COX3
|
Cytochrome-c Oxidase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
|
10486321 |
1999 |
|
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
|
16407113 |
2006 |
|
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
|
rs281865417
|
COX1;COX2
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
|
16407113 |
2006 |
|
rs281865417
|
COX1;COX2
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
|
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
GeneticVariation |
UNIPROT |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
|
rs267606883
|
COX1;COX2
|
Cytochrome-c Oxidase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
|
16284789 |
2006 |
|
rs267606883
|
COX1;COX2
|
Cytochrome-c Oxidase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
|
12140182 |
2002 |
|
rs28461189
|
ATP8;COX1;COX2
|
Cytochrome-c Oxidase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs199476128
|
ATP8;COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene.
|
27217714 |
2016 |
|
rs200165736
|
COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene.
|
27217714 |
2016 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
A mtSNP, 8684C > T (T53I) in the mitochondrial ATP synthase subunit 6 gene (ATP6), was detected in 5 of the 96 patients with type-2 diabetes, whereas this substitution was not detected in any of the 96 young obese adults.
|
16060290 |
2005 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Optic Atrophy, Hereditary, Leber
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a.
|
19026397 |
2008 |
|
rs879053914
|
COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG).
|
29610859 |
2018 |
|
rs199474826
|
ATP6;ATP8;COX2;COX3
|
Colorectal Carcinoma
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs199474827
|
ATP6;ATP8;COX1;COX2;COX3
|
Cytochrome-c Oxidase Deficiency
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs281865417
|
COX1;COX2
|
Colorectal Carcinoma
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192100
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
Leigh Disease
|
A |
0.700 |
CausalMutation |
CLINVAR |
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
|
11108511 |
2000 |
|
rs118192100
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
|
8651277 |
1996 |
|
rs118192100
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
CARDIOMYOPATHY AND DEAFNESS
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192100
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192101
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
Mitochondrial DNA Depletion Syndrome 1
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192103
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs118192104
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
|
14681892 |
2003 |