BPTF, bromodomain PHD finger transcription factor, 2186
N. diseases: 171; N. variants: 22
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.360 | 17 | 67894102 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 67918746 | frameshift variant | AG/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 17 | 67975841 | missense variant | T/C;G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |