ND1, NADH dehydrogenase, subunit 1 (complex I), 4535
N. diseases: 260; N. variants: 46
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | MT | 3946 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2004 | 2011 | ||||||||
|
0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.160 | MT | 3460 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.200 | MT | 1624 | non coding transcript exon variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.200 | MT | 3481 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | MT | 3890 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | MT | 1644 | non coding transcript exon variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.925 | 0.120 | MT | 4681 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 |