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 |
rs118192098
|
0.851 |
0.200 |
MT |
8344 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
MERRF Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2003 |
2009 |
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 |
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 |
rs199474818
|
0.882 |
0.320 |
MT |
7445 |
stop lost |
A/C;G;T
|
snv
|
|
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1994 |
2008 |
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 |
rs387906419
|
0.925 |
0.200 |
MT |
7497 |
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 |
4 |
1998 |
2010 |
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 |
rs111033319
|
0.851 |
0.280 |
MT |
7466 |
non coding transcript exon variant |
C/-;CC
|
delins
|
|
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
1999 |
2005 |
rs118192098
|
0.851 |
0.200 |
MT |
8344 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1991 |
1993 |
rs199474820
|
1.000 |
0.120 |
MT |
7510 |
non coding transcript exon variant |
T/C
|
snv
|
|
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
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 |
rs267606884
|
1.000 |
0.080 |
MT |
7275 |
missense variant |
T/C
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
2 |
2006 |
2009 |
rs387906422
|
0.925 |
0.040 |
MT |
8528 |
start lost |
T/C
|
snv
|
|
|
Histiocytoid Cardiomyopathy
|
Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2009 |
2016 |
rs1057516062
|
1.000 |
0.080 |
MT |
8418 |
missense variant |
T/C
|
snv
|
|
|
Optic Neuropathy
|
Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057516064
|
0.925 |
0.120 |
MT |
9237 |
missense variant |
G/A
|
snv
|
|
|
Developmental delay (disorder)
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057516064
|
0.925 |
0.120 |
MT |
9237 |
missense variant |
G/A
|
snv
|
|
|
Mitochondrial encephalopathy
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057516064
|
0.925 |
0.120 |
MT |
9237 |
missense variant |
G/A
|
snv
|
|
|
Epilepsy
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs111033319
|
0.851 |
0.280 |
MT |
7466 |
non coding transcript exon variant |
C/-;CC
|
delins
|
|
|
MELAS Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
1995 |
1995 |
rs118192098
|
0.851 |
0.200 |
MT |
8344 |
non coding transcript exon variant |
A/G
|
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 |
1 |
1991 |
1991 |
rs118192099
|
0.882 |
0.200 |
MT |
8356 |
non coding transcript exon variant |
T/C
|
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 |
1 |
1992 |
1992 |
rs118192100
|
0.882 |
0.200 |
MT |
8363 |
non coding transcript exon variant |
G/A
|
snv
|
|
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs118192100
|
0.882 |
0.200 |
MT |
8363 |
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 |
1 |
1996 |
1996 |