CYP1A2, cytochrome P450 family 1 subfamily A member 2, 1544
N. diseases: 218; N. variants: 12
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 74751251 | missense variant | C/A;T | snv | 5.7E-03; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 74751251 | missense variant | C/A;T | snv | 5.7E-03; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.100 | 0.909 | 11 | 2008 | 2019 | ||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms | 0.060 | 1.000 | 6 | 2012 | 2016 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms | 0.060 | 1.000 | 6 | 2012 | 2016 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2009 | 2019 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.050 | 1.000 | 5 | 2009 | 2019 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Nervous System Diseases | 0.040 | 0.500 | 4 | 2010 | 2018 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2012 | 2014 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||||
|
0.925 | 0.080 | 15 | 74750300 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.080 | 15 | 74750300 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.160 | 15 | 74749838 | missense variant | C/T | snv | 8.8E-05; 8.0E-06 | 1.3E-04 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.160 | 15 | 74749838 | missense variant | C/T | snv | 8.8E-05; 8.0E-06 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.160 | 15 | 74749838 | missense variant | C/T | snv | 8.8E-05; 8.0E-06 | 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.120 | 15 | 74746892 | upstream gene variant | T/C | snv | 5.5E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 |