| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
8 | 47972876 | missense variant | T/A | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 44969742 | missense variant | A/G | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 48955005 | non coding transcript exon variant | C/G;T | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 31985990 | intron variant | T/C | snv | 0.81 | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 48955847 | intron variant | A/G | snv | 0.67 | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 26320235 | missense variant | A/G | snv | 0.67 | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 32043581 | intron variant | A/G;T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 308314 | missense variant | T/C;G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 2556224 | 5 prime UTR variant | C/A | snv | 0.51 | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
15 | 79899001 | missense variant | G/A | snv | 0.51 | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 47270529 | intron variant | A/G;T | snv | 0.51; 1.6E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
22 | 37135396 | synonymous variant | G/A | snv | 0.42 | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 309127 | missense variant | A/C;G;T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 17 | 49370984 | intron variant | G/A | snv | 0.42 | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 3925408 | synonymous variant | T/C | snv | 0.35 | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 52495747 | 3 prime UTR variant | T/C | snv | 0.34 | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
19 | 45759028 | missense variant | C/A | snv | 0.32 | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |