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 | 0.030 | 0.667 | 3 | 2003 | 2016 | ||||
|
4 | 0.882 | 0.160 | 8 | 26770618 | missense variant | A/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 1999 | 2003 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2013 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2011 | 2014 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
5 | 0.851 | 0.240 | 17 | 42787494 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
3 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2000 | 2003 | ||||
|
5 | 19 | 11416089 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
2 | 1.000 | 0.040 | 16 | 23380659 | missense variant | C/G;T | snv | 8.1E-06; 2.1E-03 | 0.020 | 1.000 | 2 | 2004 | 2004 | ||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.020 | 1.000 | 2 | 2005 | 2011 | ||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
18 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2018 | |||||
|
6 | 0.851 | 0.160 | MT | 5178 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.020 | 1.000 | 2 | 2006 | 2019 | ||||
|
5 | 10 | 18131043 | intergenic variant | G/C;T | snv | 0.810 | 1.000 | 2 | 2011 | 2013 |