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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.020 | 0.500 | 2 | 2019 | 2020 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 1.000 | 23 | 2002 | 2014 | |||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 15 | 45023318 | frameshift variant | -/G | delins | 4.5E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |