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 | 6 | 26127043 | intron variant | A/G | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 26127043 | intron variant | A/G | snv | 0.30 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 26124015 | upstream gene variant | G/A | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 26124015 | upstream gene variant | G/A | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
6 | 26127024 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 26133882 | intron variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26122225 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 6 | 26133388 | intron variant | A/G | snv | 0.59 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 26128538 | intron variant | G/A;T | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 26128538 | intron variant | G/A;T | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 26128218 | intron variant | C/T | snv | 0.59 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
6 | 26128182 | intron variant | G/A;C;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 26128182 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |