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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27493627 | intron variant | G/A | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27493627 | intron variant | G/A | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27493627 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 27493137 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 2 | 27495607 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 2 | 27492340 | 3 prime UTR variant | T/A | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 2 | 27492340 | 3 prime UTR variant | T/A | snv | 0.42 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |