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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 22 | 39049549 | missense variant | G/A | snv | 0.52 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
25 | 0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.200 | 15 | 72712259 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | X | 40075092 | missense variant | G/A;C | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 5 | 2006 | 2008 | |||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 16 | 1447498 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 1 | 97828160 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
13 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 12 | 13567228 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2006 | 2006 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
6 | 0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.120 | 11 | 17387206 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.851 | 0.240 | 11 | 17387091 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |