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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
24 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 53573795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | X | 153693971 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
18 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
30 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.827 | 0.240 | 17 | 39673099 | missense variant | T/C;G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
19 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
32 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 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 | |||||||
|
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 | ||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.040 | 9 | 35802550 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 |