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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.979 | 477 | 2002 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.800 | 0.981 | 464 | 2002 | 2020 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.800 | 1.000 | 54 | 2002 | 2020 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 32 | 1989 | 2019 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.800 | 1.000 | 30 | 1989 | 2019 | |||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.780 | 1.000 | 21 | 1989 | 2016 | |||||
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 18 | 1995 | 2014 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.760 | 1.000 | 17 | 1995 | 2016 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 0.941 | 17 | 2011 | 2019 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.800 | 1.000 | 16 | 2005 | 2019 | |||||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.800 | 0.938 | 16 | 2001 | 2019 | ||||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 15 | 2002 | 2014 | |||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 14 | 1995 | 2012 | |||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.720 | 1.000 | 14 | 1989 | 2017 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 13 | 1989 | 2014 | |||||
|
2 | 0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv | 0.710 | 1.000 | 13 | 2002 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.833 | 12 | 2006 | 2019 | ||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2002 | 2014 | ||||
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.740 | 1.000 | 12 | 1989 | 2018 | |||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.100 | 1.000 | 11 | 1997 | 2016 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.740 | 1.000 | 11 | 1989 | 2016 | ||||
|
12 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.800 | 1.000 | 10 | 1999 | 2016 | ||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.710 | 1.000 | 10 | 1995 | 2013 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.900 | 10 | 2006 | 2017 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 1989 | 2014 |