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 | 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 | |||||||||
|
22 | 31821593 | frameshift variant | CT/- | delins | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; 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 | 31804211 | frameshift variant | C/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31806179 | frameshift variant | CAGG/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31814999 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31821566 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31838842 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31843705 | frameshift variant | CTCAGAGTTC/GGACA | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31873316 | frameshift variant | G/- | del |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31879587 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
22 | 31897565 | stop gained | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 22 | 31797616 | frameshift variant | GA/- | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 22 | 31837126 | stop gained | T/A;C | snv | 2.4E-05 | 9.1E-05 |
|
Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 22 | 31893655 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
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 | 31797697 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 22 | 31765049 | missense variant | G/A;T | snv | 1.6E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 22 | 31792777 | stop gained | C/T | snv |
|
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 | 31810589 | stop gained | C/G;T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 0 |