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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.200 | 6 | 32623176 | TF binding site variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.120 | 21 | 39091357 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.882 | 0.080 | 7 | 92606850 | 3 prime UTR variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 18 | 50621423 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 10 | 63250912 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 12 | 51967869 | intron variant | C/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |