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 | 0.120 | 8 | 63064312 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 63065925 | frameshift variant | CT/ACTTAC | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 63072954 | frameshift variant | T/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 63061345 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 8 | 63065969 | frameshift variant | A/- | delins | 5.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 63065942 | frameshift variant | -/AA | ins | 9.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 63085831 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 63065908 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 63073090 | splice acceptor variant | T/C | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 8 | 63086003 | frameshift variant | G/- | delins | 4.8E-05 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 |