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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
Digestive System Diseases | 0.810 | 1.000 | 3 | 2013 | 2018 | |||||||
|
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 |
|
0.800 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.800 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.790 | 1.000 | 10 | 2010 | 2019 | ||||||
|
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 |
|
Digestive System Diseases; Infections | 0.730 | 1.000 | 4 | 2011 | 2019 | ||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
0.710 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 22 | 43926973 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 4 | 2008 | 2016 | ||||||||
|
1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1.000 | 0.040 | 22 | 43964127 | intron variant | G/A | snv | 0.18 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1.000 | 22 | 43940430 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 22 | 43930820 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
22 | 43947746 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 43929751 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |