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 | 0.160 | 2 | 71551073 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 0 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 2 | 71568083 | splice donor variant | G/A | snv | 1.2E-04 | 4.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 2 | 71669673 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 71553071 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.851 | 0.160 | 2 | 71682597 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 2 | 71564074 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 2 | 71481934 | missense variant | TG/AT | mnv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 2 | 71570704 | missense variant | G/A | snv | 2.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 2 | 71674242 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 2 | 71517028 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 2 | 71569884 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 2 | 71520905 | splice donor variant | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 2 | 71590212 | stop gained | TG/AA | mnv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 2 | 71568305 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 2 | 71553092 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 2 | 71570277 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 2 | 71526295 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.4E-05 | 0.700 | 0 |