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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.900 | 0.969 | 32 | 1998 | 2019 | |||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.900 | 1.000 | 29 | 1998 | 2019 | |||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.880 | 1.000 | 10 | 1998 | 2019 | |||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.850 | 1.000 | 6 | 2002 | 2019 | |||||||
|
0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.840 | 1.000 | 4 | 2007 | 2012 | ||||||||
|
0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.830 | 0.800 | 5 | 1998 | 2011 | |||||||
|
0.882 | 0.200 | 5 | 136055795 | missense variant | T/G | snv |
|
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.810 | 1.000 | 2 | 2006 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 136056736 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 2 | 1998 | 2005 | ||||||||
|
0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.120 | 5 | 136062674 | missense variant | G/A;C | snv | 1.2E-03 |
|
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.160 | 5 | 136056754 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.740 | 0.923 | 13 | 1998 | 2017 | ||||||||
|
0.925 | 0.160 | 5 | 136056697 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.740 | 1.000 | 4 | 2000 | 2010 | ||||||||
|
0.851 | 0.160 | 5 | 136056769 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 0.909 | 11 | 1998 | 2014 | ||||||||
|
0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.720 | 1.000 | 2 | 2001 | 2010 | ||||||||
|
0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 9 | 1998 | 2006 | ||||||||
|
0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 7 | 1998 | 2016 | |||||||
|
5 | 136053744 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 136060763 | intron variant | A/G | snv | 0.57 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
5 | 136057449 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 136032068 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.100 | 1.000 | 18 | 1998 | 2017 | |||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.100 | 1.000 | 13 | 1998 | 2019 | |||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.100 | 1.000 | 13 | 1998 | 2017 | |||||||
|
0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 0.917 | 12 | 1999 | 2017 |