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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 1 | 155176305 | intron variant | G/A | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 1 | 155176305 | intron variant | G/A | snv | 0.34 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 1 | 155176305 | intron variant | G/A | snv | 0.34 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 1 | 155176305 | intron variant | G/A | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155177242 | synonymous variant | G/A | snv | 0.43 | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 1 | 155177242 | synonymous variant | G/A | snv | 0.43 | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 155183132 | intron variant | A/C;G;T | snv |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |