Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 10 | 3781852 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.020 | 0.500 | 2 | 2019 | 2020 | |||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 15 | 45023318 | frameshift variant | -/G | delins | 4.5E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |