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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.040 | X | 119871933 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | 16 | 1447498 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
2 | 15 | 25339239 | splice acceptor variant | -/TGAGATGTAGGTA | delins | 0.700 | 0 | ||||||||||
|
2 | 12 | 13567228 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
5 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 8 | 143818255 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 0.827 | 0.200 | X | 40075092 | missense variant | G/A;C | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.240 | 8 | 139618677 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 14 | 80955802 | missense variant | G/C | snv | 4.0E-05 | 7.0E-06 | 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 | |||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |