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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.200 | 19 | 11106668 | missense variant | T/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 1992 | 1992 | |||
|
4 | 0.925 | 0.080 | 19 | 11123200 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.080 | 19 | 11105587 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11107510 | splice donor variant | GGTGAGTCTCGGTGC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113347 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113406 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11120099 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11105435 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 11111630 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11111635 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 11113295 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11113454 | splice region variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11116139 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11116894 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11129530 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11105416 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11110692 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11111628 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 19 | 11105587 | inframe deletion | AGGAAAACTGCG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 11102787 | splice donor variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 19 | 11100271 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11100350 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11102724 | frameshift variant | -/CATTCTG | ins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 19 | 11105223 | frameshift variant | CAAGACGTGCTCCCAGGAC/- | delins | 0.700 | 0 |