| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||
|
1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 10 | 2004 | 2020 | ||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 10 | 2007 | 2019 | |||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.900 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.890 | 0.938 | 7 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 6 | 2005 | 2009 | ||||||||
|
0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 |
|
0.830 | 0.889 | 6 | 2008 | 2019 | ||||||||
|
0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 |
|
0.810 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 |
|
0.810 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.800 | 0.861 | 5 | 1997 | 2017 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.800 | 0.941 | 5 | 2002 | 2019 | |||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.870 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 |
|
0.840 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 |
|
0.820 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 |
|
0.810 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 |
|
0.900 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 |
|
0.820 | 0.833 | 4 | 2014 | 2019 | ||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 4 | 2002 | 2014 |