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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 9 | 16915876 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
19 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 4 | 166265894 | intergenic variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 6 | 32699696 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | ||||
|
1 | 1.000 | 0.040 | 5 | 53348817 | intergenic variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | X | 141990766 | intron variant | A/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 3 | 156717851 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 10 | 103934543 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 190807727 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 2 | 111061081 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 29232307 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | X | 18604645 | missense variant | C/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 |