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 | 0.080 | 3 | 12584570 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 48694299 | missense variant | T/C | snv | 3.8E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
3 | 0.882 | 0.240 | 2 | 48687950 | missense variant | G/T | snv | 2.0E-05 | 4.9E-05 | 0.030 | 1.000 | 3 | 1996 | 2015 | |||
|
2 | 0.925 | 0.240 | 2 | 48688162 | stop gained | G/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 35221671 | missense variant | G/A;C | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.970 | 33 | 2012 | 2019 | |||||
|
4 | 0.851 | 0.240 | 2 | 48688020 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.120 | 11 | 35229182 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 2 | 48755643 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.970 | 33 | 2012 | 2019 |