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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
28 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 13 | 32363189 | stop gained | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.160 | 3 | 37042267 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
27 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 0.700 | 0 |