| 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 | 22 | 40315223 | intron variant | -/T | delins | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 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 | 53140760 | intron variant | A/C | snv | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 12 | 46402739 | intron variant | A/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 5 | 177027080 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.882 | 0.120 | 13 | 40605661 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 10 | 31679855 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 9 | 804886 | intergenic variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40256869 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | X | 70926548 | synonymous variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 28110242 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 22 | 40158441 | intron variant | A/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 13 | 39726408 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 4 | 53466157 | intron variant | AAAAA/-;AAA;AAAA;AAAAAA | delins | 1.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 7 | 117273513 | downstream gene variant | C/A | snv | 0.17 | 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 | 11 | 32346024 | upstream gene variant | C/A;G | 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 | 4 | 45654814 | intergenic variant | C/G | snv | 2.1E-03 | 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 | 11 | 108488962 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 |