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 | 0.200 | 22 | 50523901 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
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 |
|
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 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 |
|
0.800 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
1.000 | 0.200 | 22 | 50524014 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
1.000 | 0.200 | 22 | 50523738 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | ||||||||||
|
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 | |||||||
|
1.000 | 22 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 |
|
0.700 | 1.000 | 5 | 1999 | 2013 | ||||||||
|
1.000 | 0.040 | 22 | 50524078 | missense variant | G/A;T | snv | 4.8E-05 |
|
Eye Diseases | 0.700 | 1.000 | 3 | 2013 | 2015 | |||||||
|
1.000 | 22 | 50526474 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2005 | 2011 | |||||||||
|
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 | 50526338 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526293 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||||
|
1.000 | 22 | 50526246 | missense variant | C/T | snv | 7.1E-06 |
|
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 | 50527716 | start lost | A/C | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
1.000 | 22 | 50527704 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 22 | 50527611 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50527223 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||||
|
1.000 | 22 | 50527215 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50527170 | missense variant | T/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 22 | 50526657 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
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 |