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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 14 | 74551108 | stop gained | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 8 | 143829279 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 8 | 143818408 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 3 | 1996 | 2014 | |||||
|
9 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.827 | 0.320 | 20 | 45894040 | missense variant | T/A | snv | 3.6E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 1996 | 2014 | |||
|
11 | 0.776 | 0.280 | 10 | 87933079 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 |