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 | 0.080 | 2 | 151664609 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 12 | 1988 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 151664609 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 151551738 | splice region variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 12 | 1988 | 2017 | ||||||
|
0.882 | 0.080 | 2 | 151551738 | splice region variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1988 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 151694370 | frameshift variant | C/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 12 | 1988 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 151694370 | frameshift variant | C/- | del | 7.0E-06 |
|
0.700 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 151561212 | missense variant | C/A;T | snv | 5.9E-05; 8.4E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2006 | 2016 | |||||||
|
0.925 | 0.080 | 2 | 151499299 | stop gained | G/A;T | snv | 7.3E-06; 3.6E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2004 | 2016 | |||||||
|
0.925 | 0.080 | 2 | 151561212 | missense variant | C/A;T | snv | 5.9E-05; 8.4E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||||
|
0.882 | 0.080 | 2 | 151551738 | splice region variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||||
|
1.000 | 0.080 | 2 | 151527528 | stop gained | G/A | snv | 8.1E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2002 | 2015 | |||||||
|
1.000 | 0.080 | 2 | 151491697 | stop gained | A/C | snv | 4.5E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2002 | 2015 | |||||||
|
1.000 | 0.080 | 2 | 151498274 | frameshift variant | -/ATTG | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2002 | 2015 | ||||||||
|
1.000 | 0.080 | 2 | 151630821 | splice acceptor variant | T/C | snv | 2.4E-05 | 4.2E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||||
|
1.000 | 0.080 | 2 | 151706880 | splice donor variant | C/A;T | snv | 9.1E-06; 1.8E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
0.925 | 0.080 | 2 | 151525265 | stop gained | G/C;T | snv | 8.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2002 | 2006 | |||||||
|
1.000 | 0.080 | 2 | 151646140 | frameshift variant | GATT/- | delins | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 151658088 | frameshift variant | T/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 151497028 | splice acceptor variant | -/AACA;ACA | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.080 | 2 | 151499299 | stop gained | G/A;T | snv | 7.3E-06; 3.6E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 151563623 | stop gained | G/A | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||||
|
1.000 | 0.080 | 2 | 151519656 | splice donor variant | A/G | snv | 9.3E-05 | 9.1E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
1.000 | 0.080 | 2 | 151679720 | splice donor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 151643269 | frameshift variant | CTCGTTTATTT/- | del |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 151494212 | frameshift variant | AG/- | del | 8.3E-06 | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2015 |