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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 20 | 44407388 | missense variant | C/A;T | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.120 | 20 | 54158136 | missense variant | G/A;C | snv | 6.6E-04; 8.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 3 | 190408416 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 240868986 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.280 | 2 | 70958113 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 177387765 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 1 | 42735969 | missense variant | C/T | snv | 1.1E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 15 | 48244876 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 240878721 | missense variant | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 2 | 240871406 | missense variant | G/A;C;T | snv | 1.8E-05; 1.3E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 177387874 | splice donor variant | G/A | snv | 7.8E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177398090 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177396762 | missense variant | G/C | snv | 2.8E-05 | 1.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 9 | 37426659 | splice region variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 2 | 44280877 | frameshift variant | G/- | del | 2.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 15 | 48234946 | frameshift variant | T/- | delins | 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 9 | 37424862 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 15 | 48229233 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 |