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 | 22 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 |
|
0.700 | 1.000 | 5 | 1999 | 2013 | ||||||||
|
1.000 | 22 | 50527170 | missense variant | T/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 22 | 50526143 | splice acceptor variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 |
|
0.800 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
22 | 50523425 | 3 prime UTR variant | T/C | snv | 0.64 | 0.63 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
22 | 50523425 | 3 prime UTR variant | T/C | snv | 0.64 | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 50523779 | synonymous variant | T/A;G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 50523779 | synonymous variant | T/A;G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 22 | 50526657 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
22 | 50524928 | intron variant | G/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 50524928 | intron variant | G/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 22 | 50524078 | missense variant | G/A;T | snv | 4.8E-05 |
|
Eye Diseases | 0.700 | 1.000 | 3 | 2013 | 2015 | |||||||
|
22 | 50528205 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
22 | 50528205 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 22 | 50524054 | missense variant | G/A;T | snv | 8.0E-05; 4.0E-06 |
|
Eye Diseases | 0.700 | 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 | ||||||||||
|
1.000 | 0.040 | 22 | 50523636 | missense variant | G/A;T | snv | 2.4E-03; 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 22 | 50525807 | stop gained | G/A;C;T | snv | 0.13; 1.3E-05; 4.3E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 22 | 50525807 | stop gained | G/A;C;T | snv | 0.13; 1.3E-05; 4.3E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
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 | ||||||
|
22 | 50526433 | missense variant | G/A | snv | 0.61 | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |