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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 12 | 89935056 | intron variant | T/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 26325284 | intron variant | T/C | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 207841577 | intron variant | T/C | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 207756858 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 78628133 | missense variant | A/G | snv | 0.38 | 0.36 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 165378122 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.080 | 2 | 166041354 | synonymous variant | A/G;T | snv | 0.73; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 166058626 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 12 | 51788702 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 9 | 137163846 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
17 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.200 | 6 | 79026079 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | X | 20161641 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 |