CYP2R1, cytochrome P450 family 2 subfamily R member 1, 120227
N. diseases: 139; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases | 0.820 | 1.000 | 3 | 2010 | 2018 | |||||||
|
0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.240 | 11 | 14893764 | upstream gene variant | A/G | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.200 | 11 | 14885847 | missense variant | A/G | snv | 2.4E-04 | 1.0E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.800 | 0 | |||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 14879385 | synonymous variant | G/A | snv | 1.7E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 14879385 | synonymous variant | G/A | snv | 1.7E-02 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2007 | 2019 | ||||||
|
0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 |
|
Digestive System Diseases; Neoplasms | 0.020 | 0.500 | 2 | 2014 | 2014 | ||||||
|
0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
|
0.925 | 0.040 | 11 | 14888727 | intron variant | T/G | snv | 0.35 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 11 | 14888727 | intron variant | T/G | snv | 0.35 |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2013 | 2013 |