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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 75946679 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 75946679 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 15 | 76020780 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 15 | 76020780 | intron variant | G/A | 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 | 15 | 76020780 | intron variant | G/A | snv | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
15 | 75948366 | intron variant | C/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 15 | 75944496 | intron variant | G/A;C | 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 | 15 | 75944496 | intron variant | G/A;C | 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 | 15 | 75944496 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
15 | 76002970 | intron variant | A/T | snv | 8.5E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
15 | 76007487 | intron variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 76010569 | intron variant | C/G;T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 76010569 | intron variant | C/G;T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 76017267 | intron variant | C/T | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 15 | 76005791 | non coding transcript exon variant | A/G;T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |