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 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 4 | 1995 | 2019 | |||||||
|
0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 |
|
0.800 | 1.000 | 2 | 1995 | 2004 | ||||||||
|
0.925 | 0.120 | 4 | 48026080 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 48026080 | intron variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 47949886 | stop gained | G/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 47936954 | stop gained | G/A | snv | 5.2E-05 | 4.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.080 | 4 | 47930644 | intron variant | G/A | snv | 4.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 4 | 47936957 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 4 | 47936816 | stop gained | G/A;T | snv | 8.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 48017306 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 4 | 47949894 | stop gained | C/A;T | snv | 1.2E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 4 | 47943203 | stop gained | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 4 | 47936954 | stop gained | G/A | snv | 5.2E-05 | 4.9E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 4 | 47952608 | stop gained | G/A | snv | 7.2E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 4 | 47952608 | stop gained | G/A | snv | 7.2E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 4 | 47952608 | stop gained | G/A | snv | 7.2E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 47937655 | missense variant | C/T | snv | 3.2E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 4 | 47936861 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 47937505 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 4 | 47951398 | frameshift variant | C/- | delins | 2.0E-05 |
|
0.700 | 1.000 | 2 | 1995 | 2014 | ||||||||
|
0.925 | 0.080 | 4 | 47951398 | frameshift variant | C/- | delins | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |