BAZ1B, bromodomain adjacent to zinc finger domain 1B, 9031
N. diseases: 215; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 73487060 | intron variant | A/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73487060 | intron variant | A/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
7 | 73454192 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73507903 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 73448919 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
7 | 73448919 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.120 | 7 | 73497513 | intron variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |