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 | 0.827 | 0.200 | 15 | 48513656 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 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 | ||||||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
16 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.200 | 15 | 48434600 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 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 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 0.700 | 0 |