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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 15 | 89211750 | missense variant | A/T | snv | 4.4E-05 | 2.8E-05 |
|
Eye Diseases | 0.700 | 1.000 | 3 | 1997 | 2001 | ||||||
|
0.851 | 0.080 | 15 | 89210794 | missense variant | G/A;C | snv | 8.6E-05; 4.8E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.020 | 1.000 | 2 | 2001 | 2008 | |||||||
|
0.851 | 0.080 | 15 | 89211750 | missense variant | A/T | snv | 4.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||
|
0.851 | 0.080 | 15 | 89211750 | missense variant | A/T | snv | 4.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.851 | 0.080 | 15 | 89210794 | missense variant | G/A;C | snv | 8.6E-05; 4.8E-06 |
|
Eye Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.080 | 15 | 89210794 | missense variant | G/A;C | snv | 8.6E-05; 4.8E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.851 | 0.080 | 15 | 89211750 | missense variant | A/T | snv | 4.4E-05 | 2.8E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 15 | 89210794 | missense variant | G/A;C | snv | 8.6E-05; 4.8E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 15 | 89215133 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 |
|
Eye Diseases | 0.810 | 1.000 | 3 | 1997 | 2001 | |||||||
|
0.882 | 0.040 | 15 | 89215133 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.040 | 15 | 89215133 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-06 |
|
Eye Diseases | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 15 | 89218627 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 15 | 89218627 | frameshift variant | T/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 15 | 89217169 | inframe deletion | GCAGGAAGAAGC/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 15 | 89217169 | inframe deletion | GCAGGAAGAAGC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89215077 | frameshift variant | GACTT/- | delins | 4.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 0 |