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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 22 | 39231710 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1989 | 2017 | |||||
|
5 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 |