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 | 0.120 | X | 32454685 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 2008 | 2018 | |||||
|
1 | 1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 31679588 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 5 | 2006 | 2015 | |||||
|
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 | |||
|
1 | 1.000 | 0.120 | X | 31180482 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 4 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 3 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.120 | X | 32565701 | splice donor variant | C/A | snv | 0.700 | 1.000 | 3 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 32644171 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
3 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 31180423 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.120 | X | 32650983 | intron variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
3 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 32484946 | stop gained | G/A;T | snv | 2.2E-05 | 0.700 | 1.000 | 2 | 1997 | 2010 | ||||
|
1 | 1.000 | 0.120 | X | 32362847 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.120 | X | 32644202 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 2 | 2006 | 2008 | ||||
|
2 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 32411754 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 45127042 | regulatory region variant | T/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 19 | 40622404 | missense variant | C/T | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 10 | 127409786 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | ||||
|
1 | 1.000 | 0.120 | 6 | 67669441 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 130909710 | splice region variant | A/G | snv | 0.64 | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 |