PNPLA3, patatin like phospholipase domain containing 3, 80339
N. diseases: 132; N. variants: 42
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 | 22 | 43932990 | missense variant | C/G;T | snv | 4.0E-06; 2.5E-04 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.030 | 0.667 | 3 | 2008 | 2009 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Nutritional and Metabolic Diseases | 0.040 | 0.750 | 4 | 2010 | 2016 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.040 | 0.750 | 4 | 2011 | 2015 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.040 | 0.750 | 4 | 2011 | 2015 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Chemically-Induced Disorders | 0.790 | 0.800 | 10 | 2010 | 2017 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.050 | 0.800 | 5 | 2013 | 2018 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.050 | 0.800 | 5 | 2011 | 2015 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.100 | 0.862 | 29 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms | 0.100 | 0.889 | 27 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Infections | 0.100 | 0.905 | 21 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Infections | 0.100 | 0.938 | 16 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.100 | 0.944 | 89 | 2009 | 2020 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.946 | 37 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.900 | 0.953 | 149 | 2009 | 2020 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.100 | 0.958 | 24 | 2010 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.100 | 1.000 | 45 | 2009 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.800 | 1.000 | 29 | 2010 | 2019 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.100 | 1.000 | 28 | 2011 | 2020 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.100 | 1.000 | 16 | 2008 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.100 | 1.000 | 14 | 2011 | 2019 | ||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Digestive System Diseases | 0.100 | 1.000 | 13 | 2010 | 2019 |