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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 46010492 | missense variant | C/G | snv | 3.6E-05 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
20 | 46014953 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 46016700 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Cardiovascular Diseases | 0.060 | 1.000 | 6 | 2009 | 2013 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Eye Diseases | 0.050 | 0.800 | 5 | 2009 | 2020 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Eye Diseases | 0.050 | 0.800 | 5 | 2009 | 2020 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.030 | 0.333 | 3 | 2005 | 2019 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Cardiovascular Diseases | 0.030 | 0.667 | 3 | 2009 | 2013 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.020 | 0.500 | 2 | 2009 | 2016 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2005 | 2010 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2017 | 2020 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 |