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 | 0.160 | 2 | 25244579 | frameshift variant | C/-;CC | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 25243967 | frameshift variant | A/-;AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25244573 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25245297 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25248157 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25246656 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25247104 | frameshift variant | CTGGTGGAAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 25247714 | inframe deletion | CAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25240727 | stop gained | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 25240717 | missense variant | C/G;T | snv | 1.2E-05 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25240714 | missense variant | G/A | snv | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 25244613 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 |