| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 17 | 7559785 | intron variant | G/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 2 | 11524625 | intron variant | A/C | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 52165349 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 4 | 53140760 | intron variant | A/C | snv | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 52893799 | intron variant | C/T | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 53718356 | intron variant | C/T | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 69768723 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 35048521 | intergenic variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 6 | 152343404 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 1 | 248897507 | regulatory region variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 22 | 40158441 | intron variant | A/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 4677552 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 27321573 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 225196 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 45654814 | intergenic variant | C/G | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 48374339 | intron variant | C/T | snv | 9.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 5 | 177027080 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 16 | 51447685 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 27485025 | upstream gene variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 5 | 176897728 | intron variant | G/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 9 | 804231 | regulatory region variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 6 | 152232879 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 17 | 7408930 | intron variant | G/A | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |