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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2000 | ||||
|
9 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.020 | 1.000 | 2 | 2003 | 2003 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.030 | 1.000 | 3 | 1997 | 2003 | |||
|
2 | 1.000 | 0.120 | 1 | 230711810 | intron variant | C/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 11 | 62646584 | inframe deletion | TACCGC/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.060 | 1.000 | 6 | 2002 | 2014 | ||||
|
3 | 0.882 | 0.200 | 16 | 2116917 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 16 | 2106172 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 88038371 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.120 | 4 | 88038365 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 1999 | 2016 | |||
|
3 | 0.925 | 0.120 | 4 | 88043458 | splice donor variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 2000 | 2012 | |||
|
2 | 0.925 | 0.120 | 4 | 88065479 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 88007931 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 3 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 88019499 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.120 | 4 | 88058104 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 88046854 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 4 | 88007759 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.200 | 4 | 88052022 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 4 | 88067946 | stop gained | C/G;T | snv | 2.4E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 4 | 88046642 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 4 | 88038380 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 88008244 | frameshift variant | G/- | delins | 7.0E-06 | 0.700 | 0 |