| 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 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 4 | 52165349 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 1 | 172153461 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 5 | 177023836 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | X | 70926548 | synonymous variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 50114082 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 5 | 177027080 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 11 | 32346024 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 13 | 40269668 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 6 | 152245912 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40414942 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 45786110 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 48948860 | regulatory region variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 53021103 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 46136789 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 54199163 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 46002240 | intergenic variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 13 | 39726408 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 4 | 44530629 | upstream gene variant | T/- | delins | 3.5E-05 | 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 |