| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 24191716 | upstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 14 | 35383280 | downstream gene variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 5 | 96916885 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 137874556 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 159231004 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 10467167 | missense variant | C/A;T | snv | 0.17; 4.8E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 11 | 58517478 | intergenic variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 10 | 62594503 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 1 | 152565478 | downstream gene variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |