rs199476104
|
0.925 |
0.160 |
MT |
14484 |
missense variant |
T/C
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.810 |
1.000 |
7 |
1992 |
2001 |
rs199476108
|
1.000 |
0.160 |
MT |
14482 |
missense variant |
C/A;G
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.810 |
1.000 |
6 |
1992 |
2002 |
rs199476106
|
1.000 |
0.160 |
MT |
14495 |
missense variant |
A/G
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1992 |
2001 |
rs397515506
|
1.000 |
0.160 |
MT |
14568 |
missense variant |
C/T
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1992 |
2001 |
rs199476109
|
0.882 |
0.120 |
MT |
14487 |
missense variant |
T/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
2003 |
2005 |
rs387906425
|
1.000 |
0.160 |
MT |
13730 |
missense variant |
G/A
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
1991 |
2005 |
rs199476105
|
0.851 |
0.200 |
MT |
14459 |
missense variant |
G/A
|
snv
|
|
|
LEBER OPTIC ATROPHY AND DYSTONIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1994 |
1996 |
rs387906424
|
0.925 |
0.200 |
MT |
14596 |
missense variant |
A/T
|
snv
|
|
|
LEBER OPTIC ATROPHY AND DYSTONIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1994 |
1996 |
rs199476107
|
0.925 |
0.200 |
MT |
14453 |
missense variant |
G/A
|
snv
|
|
|
MELAS Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs207459996
|
1.000 |
0.080 |
MT |
15572 |
missense variant |
T/C
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
|
0 |
|
|
rs869025186
|
1.000 |
0.160 |
MT |
14498 |
missense variant |
T/C
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1992 |
2001 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Seizures, Focal
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Mitochondrial Diseases
|
Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Memory impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Hyperreflexia in upper limbs
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Abnormality of the cerebral cortex
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Muscle Weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Abnormal color vision
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Mental deterioration
|
Mental Disorders
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Secondary physiologic amenorrhea
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Cerebral cortical atrophy
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs1556424691
|
0.851 |
0.200 |
MT |
15923 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Increased CSF lactate
|
|
0.700 |
1.000 |
4 |
1993 |
2018 |
rs28359178
|
0.882 |
0.280 |
MT |
13708 |
missense variant |
G/A
|
snv
|
|
|
Optic Atrophy, Hereditary, Leber
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1991 |
2005 |
rs199476105
|
0.851 |
0.200 |
MT |
14459 |
missense variant |
G/A
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1994 |
2000 |