DEPDC5, DEP domain containing 5, GATOR1 subcomplex subunit, 9681
N. diseases: 59; N. variants: 95
Source: ALL
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 | 0.040 | 22 | 31821566 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31758615 | frameshift variant | -/C | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 22 | 31906047 | frameshift variant | -/CA | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 22 | 31804171 | frameshift variant | -/GATTTGG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 22 | 31804202 | frameshift variant | A/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 22 | 31802741 | frameshift variant | A/- | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 22 | 31838720 | frameshift variant | A/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 22 | 31870703 | frameshift variant | A/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 22 | 31857530 | missense variant | A/C | snv | 2.8E-04 | 1.7E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2013 | 2016 | ||||||
|
1.000 | 0.040 | 22 | 31857506 | missense variant | A/C | snv | 3.7E-05 | 4.9E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2013 | 2016 | ||||||
|
0.925 | 0.040 | 22 | 31838683 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 22 | 31879757 | splice region variant | A/G | snv | 8.2E-06 | 2.8E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.040 | 22 | 31857483 | missense variant | A/G | snv | 3.3E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 22 | 31778139 | frameshift variant | AT/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31893735 | frameshift variant | C/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 22 | 31804211 | frameshift variant | C/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 22 | 31754942 | stop gained | C/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||
|
0.925 | 0.040 | 22 | 31798628 | stop gained | C/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 22 | 31843106 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2013 | 2016 | |||||||
|
0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.040 | 22 | 31815005 | stop gained | C/G;T | snv | 2.0E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||||
|
1.000 | 0.040 | 22 | 31806168 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
0.925 | 0.040 | 22 | 31857548 | stop gained | C/G;T | snv | 4.2E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 22 | 31810589 | stop gained | C/G;T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 22 | 31843170 | missense variant | C/T | snv | 1.0E-04 | 1.4E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2013 | 2016 |