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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
17 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.700 | 0 | ||||||
|
19 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.700 | 0 | |||||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
27 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
23 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 0.700 | 0 | |||||||
|
16 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
12 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 0.700 | 0 | ||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 9 | 452067 | frameshift variant | -/T | delins | 0.700 | 0 |