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 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 0.700 | 0 | |||||||
|
1 | 10 | 89010783 | missense variant | T/G | snv | 0.700 | 0 | ||||||||||
|
5 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 10 | 89007698 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.080 | 17 | 42907570 | frameshift variant | ATGGTCACATCTA/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 16 | 173581 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 22 | 17209534 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 155235241 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 1 | 155235303 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 1 | 155237474 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 3 | 52741486 | frameshift variant | -/T | delins | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
18 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
7 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 0.700 | 0 |