| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 63721226 | stop gained | G/T | snv | 3.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 6 | 63762520 | stop gained | A/T | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 6 | 63720626 | stop gained | A/T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||||
|
0.925 | 0.080 | 6 | 63720736 | frameshift variant | GATATTTACC/- | delins | 1.7E-04 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||||
|
0.925 | 0.080 | 6 | 63720695 | frameshift variant | AATTTTGCCAACAAAATTGG/- | del | 6.5E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.040 | 6 | 63777354 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 63777354 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 63721252 | missense variant | A/G | snv | 3.8E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.080 | 6 | 63721376 | frameshift variant | CTGCATGT/- | delins | 7.5E-04 | 6.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.080 | 6 | 63721376 | frameshift variant | CTGCATGT/- | delins | 7.5E-04 | 6.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.080 | 6 | 63726615 | frameshift variant | AGGAA/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 63726596 | frameshift variant | GT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 6 | 63726641 | stop gained | A/C | snv | 3.9E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 63720752 | frameshift variant | -/CC | delins |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 63720864 | frameshift variant | TA/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 63726584 | frameshift variant | T/- | del | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 63726584 | frameshift variant | T/- | del | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 63720695 | frameshift variant | AATTTTGCCAACAAAATTGG/- | del | 6.5E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 6 | 63720949 | frameshift variant | TTCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
6 | 63762538 | missense variant | C/T | snv | 2.1E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 6 | 63721235 | frameshift variant | ATTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 63721353 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 63778111 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 63762613 | stop gained | C/T | snv | 2.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 6 | 63762613 | stop gained | C/T | snv | 2.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 |