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 | 1.000 | 0.120 | 16 | 31184952 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 16 | 31183984 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 19 | 44895459 | intron variant | A/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 3 | 39481512 | intron variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.200 | 6 | 41161515 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.807 | 0.120 | X | 56565389 | missense variant | C/A;T | snv | 6.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 |