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 | 0.925 | 0.080 | 17 | 39657603 | intron variant | G/C | snv | 0.52 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
4 | 2 | 164684290 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.800 | 1.000 | 4 | 2013 | 2018 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
9 | 0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
3 | 22 | 21577779 | intron variant | C/T | snv | 0.31 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
6 | 0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 19 | 8366697 | intron variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||||
|
4 | 0.925 | 0.040 | 16 | 67991092 | intron variant | G/A | snv | 0.17 | 0.17 | 0.800 | 1.000 | 4 | 2008 | 2019 | |||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||
|
2 | 11 | 46721697 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
5 | 0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
2 | 19 | 54288907 | intergenic variant | C/A;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
5 | 0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2008 | 2019 | |||||
|
5 | 0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
6 | 17 | 78407903 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 12 | 123975620 | intron variant | G/T | snv | 0.33 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.800 | 1.000 | 4 | 2012 | 2019 | |||
|
7 | 1.000 | 0.040 | 19 | 44945208 | missense variant | T/A;G | snv | 3.6E-05; 0.39 | 0.800 | 1.000 | 4 | 2012 | 2019 |