| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 4 | 79966815 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 11 | 114559688 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 17 | 47612985 | intron variant | A/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 7 | 107839681 | regulatory region variant | A/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 5 | 142133639 | intron variant | A/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
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 | ||||||||
|
0.827 | 0.120 | 1 | 161502999 | upstream gene variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 198880294 | downstream gene variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 170529575 | intron variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 2 | 25278036 | intron variant | C/A | snv | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 5 | 73244023 | intron variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 5 | 40201698 | regulatory region variant | C/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 114829725 | regulatory region variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 7 | 99161494 | intergenic variant | C/A | snv | 0.67 |
|
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 | 6 | 106026874 | intron variant | C/A;G;T | snv |
|
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 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |