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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 112392830 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 4 | 112427580 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 4 | 112286121 | intron variant | C/T | snv | 9.2E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 4 | 112431241 | missense variant | G/A | snv | 0.62 | 0.65 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 112390634 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 4 | 112390634 | intron variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
4 | 112335581 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 4 | 112408189 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |