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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.895 | 19 | 2002 | 2020 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.917 | 12 | 2000 | 2019 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2005 | 2019 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.760 | 0.857 | 7 | 2008 | 2019 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1999 | 2007 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.060 | 0.833 | 6 | 2003 | 2016 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.060 | 0.833 | 6 | 2005 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.060 | 0.833 | 6 | 2008 | 2017 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.050 | 0.600 | 5 | 2011 | 2018 | |||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.030 | 0.667 | 3 | 2005 | 2012 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.030 | 1.000 | 3 | 2004 | 2008 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 2004 | 2013 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2006 | 2014 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.030 | 0.667 | 3 | 2011 | 2020 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.030 | 0.333 | 3 | 2011 | 2018 | |||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.720 | 1.000 | 3 | 2019 | 2019 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2013 | 2014 | |||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
6 | 0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2007 |