CYP2C19, cytochrome P450 family 2 subfamily C member 19, 1557
N. diseases: 274; N. variants: 14
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 94827994 | intron variant | C/T | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 94804000 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 94804000 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2009 | 2018 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2009 | 2018 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2018 | 2019 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
0.020 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.827 | 0.240 | 10 | 94780653 | stop gained | G/A | snv | 5.4E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||
|
10 | 94763288 | intron variant | A/G;T | snv | 0.16 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.040 | 10 | 94843657 | intron variant | A/G | snv | 0.21 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 10 | 94843657 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 10 | 94780595 | missense variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 94761900 | intron variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 10 | 94761900 | intron variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 10 | 94763326 | intron variant | T/C | snv | 0.16 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |