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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.080 | 11 | 101785666 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 4 | 102466262 | downstream gene variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 4 | 102612664 | intron variant | T/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.080 | 11 | 10265208 | intron variant | A/C;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.742 | 0.160 | 10 | 102835491 | non coding transcript exon variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.120 | 8 | 103189173 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 10 | 103394332 | 5 prime UTR variant | A/G | snv | 0.34 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
17 | 0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.080 | 4 | 105127134 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.080 | 4 | 105143597 | upstream gene variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 6 | 105519019 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.080 | 11 | 106436144 | intergenic variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 7 | 107901762 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 11 | 108227656 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.790 | 0.080 | 13 | 108630682 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 |