NR1I2, nuclear receptor subfamily 1 group I member 2, 8856
N. diseases: 462; N. variants: 24
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 119807329 | missense variant | C/T | snv | 9.8E-03 | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 3 | 119807329 | missense variant | C/T | snv | 9.8E-03 | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 119802381 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 119802381 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 3 | 119784158 | intron variant | C/T | snv | 0.71 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 3 | 119784158 | intron variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
3 | 119810266 | non coding transcript exon variant | G/T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2007 | 2011 | |||||||
|
0.851 | 0.120 | 3 | 119818444 | 3 prime UTR variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.851 | 0.120 | 3 | 119818444 | 3 prime UTR variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.851 | 0.120 | 3 | 119818444 | 3 prime UTR variant | T/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.925 | 0.040 | 3 | 119781009 | 5 prime UTR variant | G/A | snv | 1.5E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 3 | 119781009 | 5 prime UTR variant | G/A | snv | 1.5E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 3 | 119807356 | missense variant | G/A | snv | 1.4E-02 | 1.5E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 3 | 119807329 | missense variant | C/T | snv | 9.8E-03 | 3.8E-02 |
|
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 3 | 119802208 | intron variant | T/C | snv | 0.59 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 3 | 119812726 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 3 | 119812726 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 3 | 119781817 | 5 prime UTR variant | A/G | snv | 0.89 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 3 | 119781817 | 5 prime UTR variant | A/G | snv | 0.89 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |