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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.830 | 0.800 | 5 | 2010 | 2017 | |||||||
|
0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.830 | 1.000 | 4 | 2010 | 2015 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2009 | 2016 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.720 | 1.000 | 4 | 2013 | 2019 | |||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.710 | 0.500 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 206781696 | intron variant | G/A;C | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1 | 206795610 | intron variant | C/A | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 1 | 206785242 | intron variant | G/A | snv | 0.21 |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 206786182 | intron variant | G/A | snv | 0.37 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 206836565 | intron variant | T/C | snv | 0.84 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 206797125 | intron variant | C/A;T | snv |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.700 | 0 | |||||||||||
|
1 | 206775286 | intron variant | T/C | snv |
|
0.700 | 0 |