| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 6 | 484453 | downstream gene variant | C/G | snv | 2.3E-02 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 14 | 95585637 | downstream gene variant | T/C | snv | 2.4E-02 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 14 | 95506111 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.100 | 1.000 | 53 | 2012 | 2019 | |||
|
11 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 0.030 | 1.000 | 3 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.160 | 22 | 23181886 | missense variant | T/A;C | snv | 2.7E-04; 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 12 | 9984989 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.160 | 19 | 16325934 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.160 | 19 | 1360712 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.160 | 6 | 106105356 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |