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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 4 | 87975645 | non coding transcript exon variant | T/G | snv | 0.17 | 0.050 | 1.000 | 5 | 2012 | 2017 | ||||
|
3 | 0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2007 | 2016 | |||
|
3 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.200 | 20 | 50575367 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 31875300 | frameshift variant | T/-;TT | delins | 0.700 | 1.000 | 3 | 1990 | 2016 | |||||
|
2 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 19 | 40622404 | missense variant | C/T | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | X | 32545310 | stop gained | G/A;C | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | X | 32595870 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32468539 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32389605 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 32216981 | stop gained | G/A | snv | 0.700 | 0 |