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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.480 | 2 | 203866796 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.689 | 0.400 | 9 | 5468257 | 3 prime UTR variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.360 | 21 | 33268483 | missense variant | A/G | snv | 0.33 | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.120 | 9 | 5557708 | missense variant | T/C | snv | 0.14 | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 |