| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 15 | 81299298 | splice region variant | G/A | snv | 0.10 | 0.12 | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
1 | 15 | 81237069 | intron variant | C/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 121393565 | regulatory region variant | G/A | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 128253936 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 96410095 | upstream gene variant | G/A | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 106942471 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 2 | 153662577 | intergenic variant | A/G | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 76602022 | intron variant | G/A | snv | 3.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 186244057 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 112649483 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 65982530 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |