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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.040 | 1 | 22164231 | intergenic variant | C/A | snv | 0.22 | 0.850 | 1.000 | 7 | 2012 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.060 | 0.833 | 6 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 22159378 | downstream gene variant | T/G | snv | 0.32 | 0.750 | 1.000 | 6 | 2010 | 2020 | ||||
|
2 | 1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 | 0.850 | 1.000 | 5 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.080 | 7 | 25862019 | intergenic variant | G/A | snv | 0.63 | 0.820 | 1.000 | 5 | 2011 | 2017 | ||||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.050 | 0.800 | 5 | 1996 | 2006 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.050 | 0.600 | 5 | 2003 | 2016 | |||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.050 | 0.800 | 5 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 11587381 | splice acceptor variant | G/A | snv | 0.53 | 0.61 | 0.840 | 1.000 | 4 | 2012 | 2015 | |||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.040 | 0.500 | 4 | 2003 | 2016 | |||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.040 | 0.750 | 4 | 2008 | 2020 | ||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.040 | 1.000 | 4 | 2011 | 2018 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.030 | 0.667 | 3 | 2011 | 2016 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
4 | 1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.200 | 2 | 112774659 | 3 prime UTR variant | T/C | snv | 0.32 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
1 | 1.000 | 0.040 | 9 | 22169701 | regulatory region variant | T/C | snv | 0.44 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
3 | 1.000 | 0.040 | 1 | 22123994 | intron variant | C/T | snv | 0.13 | 0.820 | 1.000 | 3 | 2013 | 2020 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2009 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2007 | 2017 | |||
|
9 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
2 | 0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 67637543 | intron variant | C/T | snv | 0.71 | 0.820 | 1.000 | 3 | 2012 | 2015 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.030 | 1.000 | 3 | 2012 | 2018 |