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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 1 | 150553750 | frameshift variant | AGGCCTCTGGCACAGAGCCC/- | delins |
|
0.700 | 1.000 | 6 | 2010 | 2015 | |||||||||
|
0.882 | 0.160 | 1 | 150553750 | frameshift variant | AGGCCTCTGGCACAGAGCCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.882 | 0.160 | 1 | 150553750 | frameshift variant | AGGCCTCTGGCACAGAGCCC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 1 | 150553056 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 1 | 150558021 | stop gained | C/T | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 1 | 150557296 | stop gained | C/T | snv | 4.5E-05 | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 150553816 | frameshift variant | CGTGCATCCCC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 1 | 150553816 | frameshift variant | CGTGCATCCCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 150558030 | frameshift variant | G/-;GG | delins | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 1 | 150556630 | missense variant | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.240 | 1 | 150556630 | missense variant | G/A | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 1 | 150552897 | splice acceptor variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 1 | 150556974 | stop gained | T/A;G | snv | 4.0E-06; 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 1 | 150556974 | stop gained | T/A;G | snv | 4.0E-06; 2.0E-05 |
|
0.700 | 0 |