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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 137178554 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 17 | 3406923 | upstream gene variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 7 | 68579188 | intergenic variant | C/T | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | X | 137182822 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 11 | 86109035 | regulatory region variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 161277998 | intergenic variant | T/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 17 | 49213276 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
4 | 0.882 | 0.080 | X | 8642266 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.280 | 9 | 32974495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.070 | 0.714 | 7 | 2008 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 0.667 | 6 | 2008 | 2020 | ||||
|
2 | 0.925 | 0.120 | 11 | 27658411 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 150249081 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 150261592 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 11 | 618172 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 |