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 | 0.200 | 15 | 48425483 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.200 | 15 | 48497298 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.200 | 15 | 48505037 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.200 | 15 | 48510125 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.200 | 15 | 48537629 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||||||
|
0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 15 | 48596343 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 15 | 48434600 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 15 | 48505029 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |