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 | 0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2012 | ||||
|
4 | 0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 11 | 67457677 | stop gained | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 215640615 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 1 | 216200031 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 4 | 47937535 | missense variant | G/A;C | snv | 1.1E-03; 2.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.160 | 12 | 88106770 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 39017298 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 98370077 | splice donor variant | G/A | snv | 2.6E-04; 8.0E-06 | 1.4E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | X | 49228311 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 14 | 67724550 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 4 | 13381577 | stop gained | G/A;C;T | snv | 8.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 3912539 | frameshift variant | T/- | del | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 71812486 | frameshift variant | TC/- | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 |