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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||
|
0.925 | 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 | |||||||
|
1.000 | 0.080 | 11 | 14887915 | intron variant | A/C | snv | 0.10 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 11 | 14891585 | 5 prime UTR variant | A/G | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 14891585 | 5 prime UTR variant | A/G | snv | 0.35 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 14896670 | upstream gene variant | C/T | snv | 0.55 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 14896670 | upstream gene variant | C/T | snv | 0.55 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 11 | 14896670 | upstream gene variant | C/T | snv | 0.55 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 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 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 11 | 14885847 | missense variant | A/G | snv | 2.4E-04 | 1.0E-03 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
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 | |||||||||
|
0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |