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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
1.000 | 0.120 | 20 | 46011936 | intron variant | A/G | snv | 0.14 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 20 | 46011936 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 20 | 46010872 | intron variant | C/T | snv | 0.43 | 0.44 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 20 | 46010872 | intron variant | C/T | snv | 0.43 | 0.44 |
|
Respiratory Tract Diseases | 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 | ||||||||||
|
1.000 | 0.080 | 20 | 46010332 | intron variant | A/C;T | snv | 2.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | ||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
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 |