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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.710 | 1.000 | 4 | 2008 | 2019 | ||||
|
10 | 0.776 | 0.080 | 20 | 48723580 | intron variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||
|
10 | 0.776 | 0.080 | 5 | 135163402 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 10 | 99591947 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
16 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.080 | 15 | 32700910 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 0.667 | 3 | 2005 | 2010 | |||||
|
10 | 0.790 | 0.080 | 20 | 62394395 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 8 | 116611854 | intergenic variant | T/C | snv | 0.19 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
25 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
14 | 0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 3 | 2008 | 2016 | ||||
|
9 | 0.790 | 0.080 | 15 | 32720301 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2008 | 2013 | |||||
|
8 | 0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2015 | 2018 | |||||
|
9 | 0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 6276561 | intergenic variant | C/T | snv | 0.84 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
9 | 0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 0.925 | 0.080 | 3 | 122258435 | intron variant | G/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
11 | 0.763 | 0.080 | 18 | 48926786 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
9 | 0.790 | 0.080 | 10 | 99529178 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
9 | 0.790 | 0.080 | 17 | 897353 | intron variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2010 | 2017 |