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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 14 | 54844115 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 1 | 42927622 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 0.700 | 0 | ||||||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 0.700 | 0 | ||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.080 | X | 41344278 | missense variant | G/A | snv | 0.700 | 0 |