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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 1 | 247424639 | missense variant | T/C | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 247442297 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2016 | |||||||||||
|
1 | 247442297 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 247442297 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv |
|
Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 247435930 | intron variant | G/A | snv | 0.59 | 0.51 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |