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 | 133545160 | intron variant | T/C | snv | 0.61 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 10 | 133535040 | intron variant | T/A | snv | 9.9E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 10 | 133535040 | intron variant | T/A | snv | 9.9E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
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 | 0.120 | 10 | 133540621 | intron variant | T/G | snv | 0.64 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.160 | 10 | 133533455 | intron variant | G/A | snv | 0.12 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.160 | 10 | 133533455 | intron variant | G/A | snv | 0.12 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 10 | 133524462 | intron variant | C/T | snv | 0.63 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 10 | 133555706 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 10 | 133527439 | missense variant | C/T | snv | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 10 | 133527439 | missense variant | C/T | snv | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 10 | 133527439 | missense variant | C/T | snv | 1.4E-05 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 10 | 133537858 | missense variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 10 | 133527436 | missense variant | C/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 10 | 133527436 | missense variant | C/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 10 | 133527436 | missense variant | C/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 10 | 133538938 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 10 | 133538938 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 10 | 133538938 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
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 | |||||||
|
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 |