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 | 17 | 1650884 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 4 | 2001 | 2007 | ||||||||
|
0.925 | 0.080 | 17 | 1650881 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 4 | 2001 | 2007 | ||||||||
|
1.000 | 0.080 | 17 | 1650909 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 4 | 2001 | 2007 | ||||||||
|
1.000 | 0.080 | 17 | 1650898 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 4 | 2001 | 2007 | |||||||
|
1.000 | 0.080 | 17 | 1668524 | intron variant | A/G | snv | 0.19 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 1655533 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
17 | 1672578 | intron variant | C/T | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 17 | 1650882 | missense variant | T/C;G | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.925 | 0.080 | 17 | 1655533 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 1653558 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
17 | 1662014 | frameshift variant | TGAGT/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 17 | 1650881 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 1684534 | missense variant | G/A | snv | 1.0E-04 | 3.5E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 17 | 1684498 | missense variant | A/G | snv | 2.8E-05 | 4.2E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |