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 | 0.080 | 4 | 186083346 | missense variant | C/T | snv | 4.1E-04 | 5.2E-04 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
4 | 186082537 | missense variant | A/T | snv | 4.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 186082537 | missense variant | A/T | snv | 4.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 186082537 | missense variant | A/T | snv | 4.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 4 | 186083922 | stop gained | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 4 | 186084758 | missense variant | G/A | snv | 6.5E-04 | 5.9E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 4 | 186082765 | missense variant | T/C | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Digestive System Diseases; Infections | 0.070 | 1.000 | 7 | 2009 | 2016 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Eye Diseases | 0.060 | 0.667 | 6 | 2008 | 2018 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Infections; Nervous System Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.807 | 0.200 | 4 | 186068179 | upstream gene variant | T/A | snv | 0.35 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||||
|
0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 |