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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
25 | 0.827 | 0.120 | 13 | 28672407 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 7 | 55157753 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 12 | 57764775 | synonymous variant | C/T | snv | 2.3E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 4 | 74556244 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 74556361 | intron variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 |