CYP3A5, cytochrome P450 family 3 subfamily A member 5, 1577
N. diseases: 179; N. variants: 11
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 | 99654556 | intron variant | G/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 99652770 | frameshift variant | -/A | delins | 4.0E-06; 7.3E-03 | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 7 | 99668695 | 3 prime UTR variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Cardiovascular Diseases | 0.040 | 0.500 | 4 | 2010 | 2019 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Infections | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
1.000 | 0.040 | 7 | 99664039 | missense variant | T/C | snv | 4.2E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 7 | 99665170 | synonymous variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 7 | 99665170 | synonymous variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 7 | 99648291 | 3 prime UTR variant | A/G | snv | 0.17 | 0.25 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 7 | 99666641 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 7 | 99666641 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 7 | 99668695 | 3 prime UTR variant | G/A | snv | 0.38 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 7 | 99668695 | 3 prime UTR variant | G/A | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 7 | 99668695 | 3 prime UTR variant | G/A | snv | 0.38 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |