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 | 50525819 | inframe deletion | AATGGC/- | del |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 22 | 50526386 | frameshift variant | AGGGCCGAGC/TT | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
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 | 22 | 50526695 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
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 | 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 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 |
|
0.700 | 1.000 | 5 | 1999 | 2013 | ||||||||
|
1.000 | 22 | 50527612 | missense variant | C/T | snv | 3.3E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
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 | 50526650 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
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 | |||||||||||
|
22 | 50526433 | missense variant | G/A | snv | 0.61 | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
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 | 0.120 | 22 | 50523639 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
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 | ||||||||||
|
1.000 | 0.040 | 22 | 50524071 | missense variant | C/T | snv | 8.3E-04 | 7.6E-04 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 22 | 50525910 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 |
|
0.800 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
0.925 | 0.080 | 22 | 50523735 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 |