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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 3 | 7170999 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.120 | 3 | 7114015 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 4 | 102554287 | intron variant | G/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.200 | 19 | 53810809 | stop gained | G/A | snv | 1.5E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 7 | 107689156 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 12 | 80229341 | stop gained | C/T | snv | 3.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 2 | 197705955 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 5 | 141524167 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 20189197 | stop gained | C/A;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 100484347 | stop gained | C/A;T | snv | 1.6E-04; 4.1E-06 | 0.700 | 0 | |||||||
|
19 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
19 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 1 | 100484440 | stop gained | C/T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.050 | 1.000 | 5 | 2002 | 2013 | ||||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.040 | 0.750 | 4 | 2000 | 2012 | ||||
|
9 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2005 | 2011 | |||||
|
4 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2019 | |||||
|
2 | 0.925 | 0.280 | 7 | 138771243 | missense variant | A/C;G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.200 | 12 | 49954233 | missense variant | G/A | snv | 5.3E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
7 | 0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1999 | 1999 |