CYP2E1, cytochrome P450 family 2 subfamily E member 1, 1571
N. diseases: 306; N. variants: 40
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 | 10 | 133552598 | intron variant | C/A | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133558806 | non coding transcript exon variant | T/C | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133559093 | non coding transcript exon variant | C/T | snv | 0.11 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133560264 | non coding transcript exon variant | T/C | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133557631 | non coding transcript exon variant | C/T | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133546639 | intron variant | A/T | snv | 1.0E-01 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133551641 | intron variant | T/C | snv | 9.7E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.320 | 10 | 133537633 | non coding transcript exon variant | G/C | snv | 0.73 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.320 | 10 | 133537633 | non coding transcript exon variant | G/C | snv | 0.73 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.320 | 10 | 133537633 | non coding transcript exon variant | G/C | snv | 0.73 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 10 | 133537670 | non coding transcript exon variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 10 | 133537670 | non coding transcript exon variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 133559931 | non coding transcript exon variant | A/T | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133560087 | splice region variant | C/A;T | snv | 4.0E-06; 0.13 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133545160 | intron variant | T/C | snv | 0.61 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133535722 | intron variant | C/A | snv | 0.73 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133535863 | intron variant | G/A | snv | 0.13 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133557363 | non coding transcript exon variant | T/C | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133557601 | non coding transcript exon variant | T/C | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 133557690 | non coding transcript exon variant | T/A | snv | 9.4E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 10 | 133558953 | splice acceptor variant | T/C | snv | 8.1E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 133555706 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.030 | 1.000 | 3 | 2012 | 2016 |