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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 9 | 13134433 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | X | 15568325 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.040 | 21 | 26171790 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 2 | 166041354 | synonymous variant | A/G;T | snv | 0.73; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.040 | 9 | 122392256 | synonymous variant | T/C | snv | 2.4E-02 | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.040 | 6 | 40277470 | upstream gene variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2017 | 2017 |