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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 2008 | 2016 | |||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 6 | 1990 | 2016 | |||||
|
12 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2008 | 2016 | |||||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 2008 | 2016 | |||||
|
8 | 0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
4 | 0.925 | 0.040 | 2 | 29213994 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
5 | 0.851 | 0.080 | 2 | 29209789 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
4 | 0.882 | 0.160 | 2 | 29222407 | missense variant | G/A;C | snv | 3.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 2 | 29213993 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
2 | 1.000 | 2 | 29213992 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
5 | 0.851 | 0.120 | 8 | 38417333 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 8 | 38417879 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 3 | 179199156 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 3 | 179199158 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 3 | 179199157 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 2 | 29222362 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
4 | 0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.120 | 2 | 29220776 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 2 | 29209873 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 10345943 | missense variant | C/T | snv | 2.0E-04 | 5.6E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |