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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.720 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.710 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.790 | 0.160 | 4 | 15968726 | 3 prime UTR variant | T/G | snv | 0.22 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 4 | 16011163 | intron variant | C/T | snv | 1.6E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
4 | 16000517 | stop gained | G/T | snv | 2.8E-05 | 8.4E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 4 | 15980426 | missense variant | C/T | snv | 7.5E-05 | 9.8E-05 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |