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 | |||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||||
|
1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||||
|
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 | 0.040 | 22 | 43945024 | intron variant | C/G;T | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 22 | 43928796 | intron variant | A/G | snv | 0.56 | 0.59 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||||
|
0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1.000 | 0.040 | 22 | 43933050 | missense variant | A/G | snv | 7.2E-04 | 2.1E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.120 | 22 | 43946273 | missense variant | C/T | snv | 9.5E-05 | 1.0E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.160 | 22 | 43928850 | synonymous variant | C/T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 22 | 43946294 | missense variant | G/T | snv | 7.6E-03 | 3.1E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |