| 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 | 1282299 | intron variant | G/A | snv | 0.38 | 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 | ||||
|
1 | 1.000 | 0.040 | 10 | 3641956 | intergenic variant | T/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 18 | 23825589 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 190807727 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 17 | 64047898 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 12873875 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 27209192 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 104002988 | missense variant | G/C | snv | 1.2E-04 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | X | 18604645 | missense variant | C/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 156864760 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 29232307 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 |