PPARG, peroxisome proliferator activated receptor gamma, 5468
N. diseases: 877; N. variants: 101
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.020 | < 0.001 | 2 | 2009 | 2015 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.120 | 3 | 12416785 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.200 | 3 | 12416775 | synonymous variant | C/A;G;T | snv | 8.0E-06; 4.2E-03; 7.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.040 | 0.750 | 4 | 2011 | 2017 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Nervous System Diseases; Mental Disorders | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Nervous System Diseases; Mental Disorders | 0.060 | 0.500 | 6 | 2005 | 2015 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.050 | 0.600 | 5 | 2005 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 12405654 | intron variant | G/T | snv | 0.61 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 12381767 | intron variant | T/C | snv | 0.14 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 12408855 | intron variant | G/A;T | snv | 0.30 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 3 | 12415335 | intron variant | A/T | snv | 0.28 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2003 | 2014 | ||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2003 | 2014 | ||||||||
|
0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |