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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 17 | 67902693 | intron variant | G/A | snv | 0.22 |
|
Neoplasms | 0.810 | 1.000 | 4 | 2012 | 2019 | |||||||
|
1.000 | 17 | 67903835 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 19 | 1995 | 2017 | ||||||||||
|
1.000 | 17 | 67903835 | frameshift variant | A/-;AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 19 | 1995 | 2017 | |||||||||
|
1.000 | 0.040 | 17 | 67873957 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
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 | ||||||||
|
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 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
17 | 67951524 | non coding transcript exon variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 67951524 | non coding transcript exon variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 67951524 | non coding transcript exon variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |