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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 2 | 208124321 | missense variant | G/A | snv |
|
0.800 | 1.000 | 11 | 1999 | 2011 | |||||||||
|
0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1999 | 2011 | |||||||||
|
1.000 | 2 | 208124255 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 11 | 1999 | 2011 | ||||||||||
|
0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 |
|
0.800 | 1.000 | 11 | 1999 | 2011 | ||||||||
|
0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.720 | 1.000 | 3 | 2016 | 2017 | |||||||
|
0.925 | 0.040 | 2 | 208124321 | missense variant | G/A | snv |
|
Eye Diseases | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||||||
|
2 | 208121780 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||||||
|
0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.200 | 2 | 208121749 | frameshift variant | -/C | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 208121796 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
2 | 208121723 | frameshift variant | C/-;CC | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||||
|
0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del |
|
Eye Diseases | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||||||
|
0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 |
|
Eye Diseases | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||||
|
0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv |
|
Eye Diseases | 0.030 | 1.000 | 3 | 2005 | 2018 | ||||||||
|
0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 208124206 | missense variant | C/G;T | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 2 | 208124321 | missense variant | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 2 | 208121873 | frameshift variant | A/- | del | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 2 | 208124183 | missense variant | C/A;T | snv | 4.4E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 2 | 208124183 | missense variant | C/A;T | snv | 4.4E-04; 4.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |