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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.708 | 0.280 | 5 | 56737113 | regulatory region variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 17 | 45489971 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 4 | 79376097 | intergenic variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 111061081 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.708 | 0.280 | 20 | 34002002 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv | 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 | ||||
|
1 | 1.000 | 0.040 | 5 | 53348817 | intergenic variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.708 | 0.280 | 3 | 27285723 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.701 | 0.280 | 13 | 32295727 | 3 prime UTR variant | G/A | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 13 | 32265853 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | X | 141990766 | intron variant | A/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 37630749 | intron variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 22 | 28538325 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 3 | 156717851 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 17 | 76359184 | intron variant | C/- | del | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 176178498 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 2 | 176172583 | 3 prime UTR variant | A/C;G;T | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 17 | 48423311 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.708 | 0.280 | 12 | 52918828 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.120 | 17 | 37733029 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.701 | 0.280 | 3 | 169043635 | intergenic variant | A/G | snv | 4.2E-02 | 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 | ||||
|
15 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |