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 | 78532228 | missense variant | C/A;T | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 1 | 78324107 | intron variant | A/G | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 78324107 | intron variant | A/G | snv | 0.97 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 78421523 | intron variant | T/C | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 78421523 | intron variant | T/C | snv | 0.95 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 78489470 | intron variant | C/T | snv | 0.25 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 1 | 78536904 | 3 prime UTR variant | A/G | snv | 0.16 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 78490747 | intron variant | T/C | snv | 0.78 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 |