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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.160 | 15 | 48513591 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.200 | 15 | 48505029 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.200 | 15 | 48472628 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 15 | 48487155 | missense variant | C/T | snv | 1.3E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 1994 | 1994 |