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 | 12 | 124968903 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 11 | 47419927 | intron variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 22 | 42179633 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.040 | 14 | 31599308 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.200 | 6 | 79026079 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.080 | 16 | 2498333 | missense variant | G/A;T | snv | 1.3E-05; 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 11 | 65720385 | missense variant | G/A | snv | 9.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
32 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 18 | 74633832 | inframe insertion | -/AGT | delins | 0.700 | 0 | ||||||||||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 181712745 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 6 | 79042902 | frameshift variant | -/T | ins | 0.700 | 0 |