| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 31799919 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
11 | 31799919 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv |
|
0.700 | 1.000 | 8 | 2009 | 2016 | |||||||||
|
0.925 | 0.080 | 11 | 31793521 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 5 | 1994 | 2016 | |||||||||
|
0.925 | 0.080 | 11 | 31793521 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 1994 | 2016 | ||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
0.700 | 1.000 | 5 | 2001 | 2018 | |||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 2001 | 2018 | ||||||||
|
0.776 | 0.280 | 11 | 31793787 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 1999 | 2017 | ||||||||
|
0.776 | 0.280 | 11 | 31793787 | stop gained | G/A | snv |
|
0.700 | 1.000 | 5 | 1999 | 2017 | |||||||||
|
0.925 | 0.080 | 11 | 31800811 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 1998 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 31800811 | stop gained | G/A | snv |
|
0.700 | 1.000 | 2 | 1998 | 2017 | |||||||||
|
0.925 | 0.080 | 11 | 31801593 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.925 | 0.080 | 11 | 31801593 | stop gained | C/A | snv |
|
0.700 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.925 | 0.080 | 11 | 31800703 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 11 | 31800703 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 31801734 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 31801674 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 11 | 31801653 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 31801618 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 31800747 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 31794651 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 31793774 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 31790710 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 31790710 | stop gained | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |