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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
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 | |||
|
7 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 2 | 15467394 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 2 | 15539327 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 6 | 30918851 | missense variant | C/G;T | snv | 2.4E-05 | 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 | |||||
|
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 | ||||
|
6 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 8 | 139618677 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.925 | 8 | 143818378 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.882 | 0.160 | 8 | 143818255 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.925 | 0.120 | 10 | 133293066 | missense variant | G/A | snv | 4.0E-04 | 1.6E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 |