| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 203698281 | synonymous variant | T/A;C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 47972876 | missense variant | T/A | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 48118502 | missense variant | C/A | snv | 0.85 | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
22 | 23767587 | synonymous variant | T/G | snv | 0.81 | 0.92 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
13 | 112825506 | missense variant | A/C;G;T | snv | 0.76; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 8253992 | missense variant | C/T | snv | 0.75 | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
3 | 184292260 | 3 prime UTR variant | G/C | snv | 0.73 | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 308290 | missense variant | T/C | snv | 0.70 | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
9 | 4118111 | missense variant | G/T | snv | 0.67 | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
4 | 38935751 | synonymous variant | T/A;C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 60541843 | 3 prime UTR variant | G/A | snv | 0.62 | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 61781087 | intron variant | A/G | snv | 0.61 | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
10 | 7824594 | intron variant | T/C | snv | 0.57 | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
22 | 37074564 | intron variant | G/A | snv | 0.53 | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 4502189 | 3 prime UTR variant | T/C;G | snv | 0.51; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 81996668 | missense variant | T/A;G | snv | 0.50; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 75687441 | synonymous variant | G/A;T | snv | 1.4E-04; 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 3 | 52799789 | missense variant | C/A | snv | 0.48 | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
11 | 117397168 | missense variant | A/C;G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 8257831 | missense variant | C/T | snv | 0.43 | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
8 | 60266015 | missense variant | T/C;G | snv | 0.42; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |