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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.829 | 70 | 1999 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.806 | 31 | 2002 | 2019 | |||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 17 | 2002 | 2019 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 0.941 | 17 | 2002 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.100 | 0.818 | 11 | 2006 | 2019 | |||
|
11 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 0.840 | 1.000 | 8 | 2010 | 2019 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.070 | 0.714 | 7 | 2005 | 2013 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.060 | 0.833 | 6 | 2008 | 2019 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.060 | 0.667 | 6 | 2005 | 2013 | ||||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.060 | 0.833 | 6 | 2008 | 2018 | |||
|
4 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 0.700 | 1.000 | 6 | 2004 | 2012 | |||
|
3 | 0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2005 | 2009 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.050 | 0.600 | 5 | 1999 | 2013 | |||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 0.750 | 4 | 2009 | 2014 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
7 | 0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2005 | 2010 | |||
|
4 | 0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 4 | 2006 | 2009 | |||
|
5 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2009 | ||||
|
3 | 0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2009 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.030 | 0.667 | 3 | 2010 | 2014 | |||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.030 | 0.667 | 3 | 2011 | 2015 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.030 | 1.000 | 3 | 2016 | 2018 | ||||
|
5 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2005 |