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 | 14 | 67726084 | missense variant | C/T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 67726084 | missense variant | C/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 67724550 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 14 | 67725206 | missense variant | C/A | snv | 6.4E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 14 | 67727191 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 67727191 | splice donor variant | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 14 | 67729308 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
14 | 67727179 | splice donor variant | GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 14 | 67727097 | stop gained | C/T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 14 | 67726086 | stop gained | G/T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 14 | 67727014 | missense variant | G/A;C | snv | 0.13; 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 14 | 67727062 | missense variant | C/T | snv | 9.5E-05 | 2.8E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 14 | 67727062 | missense variant | C/T | snv | 9.5E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 |