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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | MT | 583 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1998 | 2009 | ||||||||
|
0.925 | 0.200 | MT | 586 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2003 | 2008 | ||||||||
|
1.000 | 0.160 | MT | 611 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.200 | MT | 616 | non coding transcript exon variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | MT | 622 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.200 | MT | 616 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | MT | 586 | non coding transcript exon variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | MT | 608 | non coding transcript exon variant | A/G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |