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 |
rs281865417
|
1.000 |
0.080 |
MT |
6277 |
missense variant |
G/A
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
2 |
2006 |
2009 |
rs199474827
|
1.000 |
0.080 |
MT |
7671 |
missense variant |
T/A
|
snv
|
|
|
Cytochrome-c Oxidase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs387906422
|
0.925 |
0.040 |
MT |
8528 |
start lost |
T/C
|
snv
|
|
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
1.000 |
1 |
2009 |
2009 |
rs199474826
|
1.000 |
0.080 |
MT |
8009 |
missense variant |
G/A
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.800 |
|
0 |
|
|
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 |
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 |
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 |
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 |
rs121434458
|
1.000 |
0.200 |
MT |
5591 |
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 |
2006 |
2009 |
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 |
rs267606883
|
0.925 |
0.080 |
MT |
6328 |
missense variant |
C/T
|
snv
|
|
|
Cytochrome-c Oxidase Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2002 |
2006 |
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 |
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 |
rs118192104
|
1.000 |
0.160 |
MT |
8361 |
non coding transcript exon variant |
G/A
|
snv
|
|
|
MERRF Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1569484151
|
1.000 |
0.120 |
MT |
7462 |
non coding transcript exon variant |
C/T
|
snv
|
|
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs199474817
|
0.882 |
0.200 |
MT |
7512 |
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 |
1995 |
1995 |
rs199474818
|
0.882 |
0.320 |
MT |
7445 |
stop lost |
A/C;G;T
|
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 |
1994 |
1994 |
rs199474821
|
0.925 |
0.280 |
MT |
7511 |
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 |
1 |
1999 |
1999 |