rs199951903
|
|
Obesity, Morbid
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to evaluate whether the 15497 G/A mtDNA polymorphism (G251S) in the cytochrome b subunit of respiratory complex III, which has been associated with obesity-related variables and lipid metabolism in a Japanese population, is associated with severe obesity also in adult Caucasians from southern Italy.
|
17015183 |
2006 |
rs207459997
|
|
Ubiquinone dehydrogenase deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
|
8910895 |
1996 |
rs207460001
|
|
Mitochondrial Diseases
|
|
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 |
rs28357681
|
|
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 |
rs28357681
|
|
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 |
rs28357681
|
|
Glioblastoma Multiforme
|
|
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 |
rs28357681
|
|
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 |
rs28359178
|
|
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 |
rs28359178
|
|
Multiple Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We reported earlier that two mitochondrial gene polymorphisms, UCP2 -866 G/A (rs659366) and mtDNA nt13708 G/A (rs28359178), are associated with multiple sclerosis (MS).
|
19387457 |
2009 |
rs41518645
|
|
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 |
rs41518645
|
|
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 |
rs199951903
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although the frequencies of some variations, such as N260D and G251S, differed significantly between centenarians and patients with Parkinson's disease, the most striking feature of centenarian cytochrome b was the much greater scarceness of amino acid variations in contrast with the variety of amino acid replacements in patients with Parkinson's disease.
|
12375058 |
2002 |
rs199951903
|
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although the frequencies of some variations, such as N260D and G251S, differed significantly between centenarians and patients with Parkinson's disease, the most striking feature of centenarian cytochrome b was the rareness of amino acid variations in contrast to the variety of amino acid replacements in patients with Parkinson's disease.
|
12391595 |
2002 |
rs1057518882
|
|
Parkinsonian Disorders
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057518882
|
|
Blindness
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121434453
|
|
MELAS Syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
|
7726154 |
1995 |
rs121434453
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121434453
|
|
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121434453
|
|
Diabetes-deafness syndrome maternally transmitted (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1556424691
|
|
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 |
rs1556424691
|
|
Abnormality of the cerebral cortex
|
G |
0.700 |
CausalMutation
|
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |
rs1556424691
|
|
Mitochondrial Diseases
|
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 |
rs1556424691
|
|
Hyperreflexia in upper limbs
|
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 |
rs1556424691
|
|
Increased CSF lactate
|
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 |
rs1556424691
|
|
Muscle Weakness
|
G |
0.700 |
CausalMutation
|
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |