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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 165994176 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
23 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.040 | 3 | 69956496 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
18 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 0.700 | 0 | |||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
16 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 |