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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.160 | 18 | 55539976 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 11 | 58517478 | intergenic variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 10 | 62594503 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 4 | 79966815 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.160 | 16 | 85981710 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 6 | 167098098 | intron variant | T/G | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 10 | 99518968 | intergenic variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 11 | 128476898 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 |