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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 1 | 44829444 | frameshift variant | GA/- | delins | 6.3E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | snv | 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 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 136115639 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
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 | |||
|
5 | 0.827 | 0.040 | 2 | 15941962 | 5 prime UTR variant | G/A | snv | 2.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 5 | 2000 | 2016 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2000 | 2016 | |||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
11 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | 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 | |||||
|
22 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | 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 | |||||
|
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 | ||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | 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 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 3 | 12416775 | synonymous variant | C/A;G;T | snv | 8.0E-06; 4.2E-03; 7.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |