| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 136115639 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 2 | 15941962 | 5 prime UTR variant | G/A | snv | 2.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.040 | 2 | 29220756 | missense variant | T/A;G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 8 | 31081132 | stop gained | C/T | snv | 1.7E-04 | 3.2E-04 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |