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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 2 | 197766990 | intron variant | G/A | snv | 0.73 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 95324637 | upstream gene variant | T/C | snv | 0.72 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 9 | 133268647 | intron variant | A/T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 5 | 60401476 | intron variant | C/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 173767581 | intron variant | C/T | snv | 0.62 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 0.500 | 2 | 2000 | 2014 | ||||
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.020 | 0.500 | 2 | 2002 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2005 | ||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.020 | 0.500 | 2 | 1997 | 2016 | |||
|
2 | 1.000 | 0.080 | 10 | 113297684 | regulatory region variant | A/G | snv | 5.5E-02 | 0.030 | 0.667 | 3 | 2016 | 2019 | ||||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.100 | 0.727 | 11 | 2010 | 2019 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.040 | 0.750 | 4 | 2009 | 2012 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.789 | 19 | 2008 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.789 | 19 | 2008 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.060 | 0.833 | 6 | 2005 | 2016 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.780 | 0.875 | 8 | 2007 | 2018 | ||||
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.890 | 0.900 | 10 | 2009 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.914 | 58 | 1998 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2006 | 2018 |