rs199476138
|
0.882 |
0.120 |
MT |
9185 |
missense variant |
T/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
8 |
1993 |
2013 |
rs199476112
|
0.925 |
0.160 |
MT |
11778 |
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
|
0.810 |
1.000 |
6 |
1988 |
2011 |
rs199476135
|
0.882 |
0.120 |
MT |
9176 |
missense variant |
T/C;G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1993 |
2007 |
rs199476133
|
0.742 |
0.320 |
MT |
8993 |
missense variant |
T/C;G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1990 |
2007 |
rs199476133
|
0.742 |
0.320 |
MT |
8993 |
missense variant |
T/C;G
|
snv
|
|
|
Neuropathy ataxia and retinis pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1990 |
1994 |
rs199476117
|
0.925 |
0.120 |
MT |
10158 |
missense variant |
T/C
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
1.000 |
3 |
2001 |
2010 |
rs267606890
|
0.925 |
0.120 |
MT |
10191 |
missense variant |
T/C
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
1.000 |
3 |
2001 |
2010 |
rs267606891
|
0.882 |
0.200 |
MT |
10197 |
missense variant |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
1.000 |
3 |
2001 |
2010 |
rs199476133
|
0.742 |
0.320 |
MT |
8993 |
missense variant |
T/C;G
|
snv
|
|
|
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2005 |
2007 |
rs199476133
|
0.742 |
0.320 |
MT |
8993 |
missense variant |
T/C;G
|
snv
|
|
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
1.000 |
2 |
2005 |
2007 |
rs267606891
|
0.882 |
0.200 |
MT |
10197 |
missense variant |
G/A
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2007 |
2009 |
rs199476135
|
0.882 |
0.120 |
MT |
9176 |
missense variant |
T/C;G
|
snv
|
|
|
Striatonigral Degeneration, Infantile, Mitochondrial
|
Nervous System Diseases
|
0.800 |
1.000 |
1 |
1995 |
1995 |
rs200613617
|
1.000 |
0.160 |
MT |
9804 |
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 |
|
0 |
|
|
rs267606892
|
1.000 |
0.080 |
MT |
10563 |
missense variant |
T/C
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
|
0 |
|
|
rs794726857
|
0.925 |
0.200 |
MT |
8969 |
missense variant |
G/A
|
snv
|
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
|
0 |
|
|
rs267606890
|
0.925 |
0.120 |
MT |
10191 |
missense variant |
T/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
7 |
2001 |
2019 |
rs121434462
|
0.925 |
0.200 |
MT |
12315 |
non coding transcript exon variant |
G/A
|
snv
|
|
|
MELAS Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1996 |
2009 |
rs199476117
|
0.925 |
0.120 |
MT |
10158 |
missense variant |
T/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2003 |
2005 |
rs199476136
|
0.925 |
0.120 |
MT |
8851 |
missense variant |
T/C
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1995 |
2013 |
rs794726857
|
0.925 |
0.200 |
MT |
8969 |
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
|
0.700 |
1.000 |
3 |
2014 |
2018 |
rs121434474
|
0.925 |
0.200 |
MT |
12147 |
non coding transcript exon variant |
G/A
|
snv
|
|
|
MELAS Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2004 |
2004 |
rs1556423844
|
1.000 |
0.160 |
MT |
10663 |
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 |
2 |
1995 |
2002 |
rs28384199
|
0.882 |
0.160 |
MT |
11777 |
missense variant |
C/A;G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2004 |
rs28384199
|
0.882 |
0.160 |
MT |
11777 |
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
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs1057516064
|
0.925 |
0.120 |
MT |
9237 |
missense variant |
G/A
|
snv
|
|
|
Developmental delay (disorder)
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2017 |
2017 |