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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 43934151 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 43934151 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 22 | 43934248 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 22 | 43934248 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 22 | 43937599 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 | |||||||
|
1.000 | 22 | 43939864 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 22 | 43933198 | intron variant | C/A;T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
22 | 43938962 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 43933395 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 22 | 43945024 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 22 | 43945024 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |