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 | 0.040 | 17 | 67873957 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 0.040 | 17 | 67873957 | intron variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 17 | 67919174 | intron variant | TAATAATAATAATAATAATAATAA/-;TAA;TAATAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA;TAATAATAATAATAATAA;TAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAATAA | delins | 0.19 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 67832255 | intron variant | T/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 67981016 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 67925718 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 67979269 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 67884422 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 67884422 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 17 | 67896227 | intron variant | G/T | snv | 0.32 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
17 | 67896391 | intron variant | G/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 67835900 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 17 | 67975933 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |