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 | 0.080 | 1 | 94078678 | missense variant | T/C;G | snv | 0.26 | 0.26 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 94078678 | missense variant | T/C;G | snv | 0.26 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 1 | 94010911 | missense variant | T/A | snv | 4.3E-02 | 4.1E-02 |
|
0.730 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 1 | 94010911 | missense variant | T/A | snv | 4.3E-02 | 4.1E-02 |
|
0.030 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 1 | 94010911 | missense variant | T/A | snv | 4.3E-02 | 4.1E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 94047009 | missense variant | C/A;T | snv | 2.8E-05; 3.0E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 94047009 | missense variant | C/A;T | snv | 2.8E-05; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 93998061 | missense variant | C/T | snv | 1.1E-02 | 1.0E-02 |
|
Eye Diseases | 0.030 | 0.667 | 3 | 2000 | 2015 | ||||||
|
0.925 | 0.080 | 1 | 94040048 | missense variant | A/C | snv | 6.7E-03 | 2.8E-02 |
|
0.800 | 1.000 | 24 | 1997 | 2017 | |||||||
|
0.925 | 0.080 | 1 | 94040048 | missense variant | A/C | snv | 6.7E-03 | 2.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 1 | 94032007 | missense variant | C/T | snv | 5.1E-03 | 2.0E-02 |
|
0.700 | 1.000 | 19 | 1997 | 2014 | ||||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.830 | 1.000 | 19 | 1997 | 2019 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.730 | 1.000 | 11 | 1997 | 2012 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.060 | 0.833 | 6 | 1999 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 2000 | 2016 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.720 | 1.000 | 4 | 1997 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |