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 | ||||||||||
|
0.925 | 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 | |||||||
|
0.882 | 0.120 | 15 | 74746892 | upstream gene variant | T/C | snv | 5.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 15 | 74746892 | upstream gene variant | T/C | snv | 5.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Nervous System Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 15 | 74751897 | intron variant | G/A | snv | 0.46 | 0.43 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
15 | 74747272 | upstream gene variant | T/- | del | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
15 | 74752059 | intron variant | G/C | snv | 3.7E-02 |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 15 | 74750940 | intron variant | C/T | snv | 2.2E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 15 | 74749801 | missense variant | C/G | snv | 1.7E-04 | 5.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.925 | 0.080 | 15 | 74749801 | missense variant | C/G | snv | 1.7E-04 | 5.6E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 |