DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A, 1859
N. diseases: 212; N. variants: 55
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37505442 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37480768 | frameshift variant | A/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 21 | 37480756 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37486513 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37490244 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37490393 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 21 | 37490273 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
21 | 37493101 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
21 | 37490451 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 21 | 37505352 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
21 | 37490353 | frameshift variant | -/A | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 21 | 37512002 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||||
|
21 | 37496249 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 |