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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 4 | 13381577 | stop gained | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 4 | 13376553 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 4 | 13460734 | frameshift variant | CT/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 4 | 13381577 | stop gained | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 4 | 13381577 | stop gained | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 4 | 13376553 | stop gained | G/A;T | snv |
|
0.700 | 0 |