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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.830 | 1.000 | 19 | 1997 | 2019 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.730 | 1.000 | 11 | 1997 | 2012 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.060 | 0.833 | 6 | 1999 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 5 | 2000 | 2016 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.720 | 1.000 | 4 | 1997 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.710 | 0.500 | 2 | 2010 | 2012 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.820 | 1.000 | 32 | 1997 | 2019 | |||||||
|
0.882 | 0.160 | 1 | 94042767 | missense variant | G/A | snv | 1.2E-04 | 1.8E-04 |
|
0.800 | 1.000 | 25 | 1997 | 2017 | |||||||
|
0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
0.710 | 1.000 | 12 | 1997 | 2016 |