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 | 0.040 | 7 | 81720907 | intron variant | G/A | snv | 0.85 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 7 | 81720892 | intron variant | A/G | snv | 0.84 | 0.85 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 81707297 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 7 | 81699165 | 3 prime UTR variant | A/G;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 7 | 81726133 | intron variant | T/A | snv | 0.19 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 7 | 81726133 | intron variant | T/A | snv | 0.19 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 81701064 | 3 prime UTR variant | C/A;G | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 7 | 81729639 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 7 | 81729735 | missense variant | C/T | snv | 4.6E-02 | 4.3E-02 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.040 | 7 | 81718232 | intron variant | T/G | snv | 0.82 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 7 | 81718232 | intron variant | T/G | snv | 0.82 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 7 | 81718232 | intron variant | T/G | snv | 0.82 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 7 | 81706144 | intron variant | C/T | snv | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 7 | 81706144 | intron variant | C/T | snv | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 81705724 | missense variant | G/A | snv | 6.4E-05 | 2.8E-05 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 7 | 81733271 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 7 | 81752245 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 81740948 | intron variant | G/T | snv | 0.78 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 7 | 81720892 | intron variant | A/G | snv | 0.84 | 0.85 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2010 | 2019 |