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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 11 | 27736075 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 19 | 44899959 | intron variant | C/G;T | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 128054737 | intron variant | C/G;T | snv | 1.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 21 | 25955652 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 2 | 54622367 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 681593 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 41000929 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 169611580 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | 16 | 88972472 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 76988371 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 15 | 51215677 | intron variant | G/A | snv | 0.11 | 8.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.040 | 21 | 25891795 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
2 | 0.882 | 0.040 | 10 | 60540625 | intron variant | A/G | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 77021786 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 19 | 10168778 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 7 | 86702440 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 12 | 2113566 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 13 | 33019132 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 15 | 55860531 | missense variant | T/C | snv | 0.74 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 |