| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 29666235 | missense variant | A/G;T | snv | 0.95; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 203698281 | synonymous variant | T/A;C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 203683316 | synonymous variant | A/G | snv | 0.88 | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 29945053 | splice region variant | T/A;C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 100684145 | synonymous variant | T/C | snv | 0.85 | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 86889 | intron variant | T/A;C | snv | 4.2E-06; 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 12 | 111599196 | missense variant | G/C | snv | 0.77 | 0.61 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
17 | 28858809 | synonymous variant | C/T | snv | 0.77 | 0.81 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 30562468 | synonymous variant | T/C | snv | 0.72 | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | 6 | 26033278 | synonymous variant | G/A | snv | 0.71 | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 6 | 26031640 | 3 prime UTR variant | G/A | snv | 0.70 | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 39634118 | intron variant | G/A | snv | 0.69 | 0.60 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 6 | 26056321 | synonymous variant | A/G | snv | 0.68 | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
9 | 4860300 | 3 prime UTR variant | A/G | snv | 0.67 | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 6 | 26044141 | non coding transcript exon variant | A/G | snv | 4.1E-06; 0.67 | 0.67 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
17 | 20306161 | 3 prime UTR variant | C/T | snv | 0.67 | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 20260216 | synonymous variant | A/G | snv | 0.67 | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 20204926 | missense variant | A/T | snv | 0.67 | 0.71 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 39666058 | synonymous variant | A/C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
19 | 12918374 | intron variant | G/A | snv | 0.66 | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 12928470 | non coding transcript exon variant | A/G | snv | 0.65 | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 50523425 | 3 prime UTR variant | T/C | snv | 0.64 | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 50523779 | synonymous variant | T/A;G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 50524353 | missense variant | C/A;G;T | snv | 1.7E-05; 0.64; 1.7E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |