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 |
|
0.800 | 1.000 | 29 | 2010 | 2019 | |||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 |
|
0.710 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
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 | 43953356 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 22 | 43936063 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 22 | 43932163 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
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 | ||||||||
|
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 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 22 | 43945042 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 22 | 43945313 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 22 | 43941653 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |