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
|
|
|
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
|
|
|
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 |
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
|
|
|
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 |
1999 |
1999 |
rs199476133
|
0.742 |
0.320 |
MT |
8993 |
missense variant |
T/C;G
|
snv
|
|
|
MELAS Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |