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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2013 | 2017 | |||||||
|
1.000 | 0.040 | 22 | 31778119 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.040 | 22 | 31814991 | splice acceptor variant | G/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 22 | 31893655 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
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 | |||||||
|
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 | 31778103 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.925 | 0.040 | 22 | 31879713 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2016 | 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 | |||||||
|
0.925 | 0.040 | 22 | 31838683 | splice acceptor variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 22 | 31906252 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 22 | 31797688 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 22 | 31815101 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 22 | 31876262 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 22 | 31819199 | frameshift variant | G/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31766651 | stop gained | C/T | snv | 2.4E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 22 | 31810520 | splice acceptor variant | G/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31810580 | frameshift variant | AT/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31845104 | frameshift variant | ACTGCGACATCTATGGGGACAGGCCC/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31797704 | splice donor variant | G/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31879587 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31797697 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 22 | 31792777 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 22 | 31843106 | stop gained | C/G;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |