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 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 22 | 50526386 | frameshift variant | AGGGCCGAGC/TT | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526317 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 22 | 50525908 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50525859 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526474 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2005 | 2011 | |||||||||
|
22 | 50524353 | missense variant | C/A;G;T | snv | 1.7E-05; 0.64; 1.7E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 50524353 | missense variant | C/A;G;T | snv | 1.7E-05; 0.64; 1.7E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.200 | 22 | 50523835 | missense variant | C/A;T | snv | 8.0E-06; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1999 | 2015 | |||||||
|
0.925 | 0.200 | 22 | 50523835 | missense variant | C/A;T | snv | 8.0E-06; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 22 | 50525919 | splice acceptor variant | C/A;T | snv | 9.2E-06 |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 22 | 50526648 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 0.200 | 22 | 50524305 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 22 | 50527629 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
1.000 | 22 | 50526142 | splice acceptor variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 1999 | 2000 | ||||||||||
|
1.000 | 22 | 50526575 | splice donor variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 8 | 1999 | 2015 | ||||||
|
0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 |
|
Eye Diseases | 0.800 | 1.000 | 3 | 2013 | 2015 | ||||||
|
1.000 | 22 | 50526246 | missense variant | C/T | snv | 7.1E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 22 | 50527215 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526611 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526141 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 22 | 50526019 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 |