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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 19 | 11113584 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11113296 | missense variant | T/C | snv | 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 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11113421 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11113654 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 19 | 11113705 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11113746 | frameshift variant | TG/- | delins | 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 | 0.925 | 0.080 | 19 | 11111557 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.120 | 19 | 11113313 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11111538 | missense variant | A/C;T | snv | 8.8E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 19 | 11111523 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 11113262 | coding sequence variant | -/GGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 19 | 11113451 | splice donor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 19 | 11113329 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 19 | 11113643 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 19 | 11113308 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 19 | 11113414 | missense variant | C/G;T | snv | 3.2E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11113644 | missense variant | T/C;G | snv | 0.700 | 0 |