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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.050 | 1.000 | 5 | 2006 | 2016 | ||||
|
4 | 0.925 | 0.160 | 4 | 26106575 | downstream gene variant | G/C | snv | 0.29 | 0.820 | 1.000 | 5 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 | 0.800 | 1.000 | 4 | 2007 | 2016 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.820 | 1.000 | 4 | 2010 | 2016 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.120 | 16 | 85985481 | upstream gene variant | T/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 167127354 | intron variant | C/T | snv | 0.61 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.820 | 1.000 | 4 | 2008 | 2014 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.040 | 0.750 | 4 | 2006 | 2013 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.730 | 0.750 | 4 | 2012 | 2017 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.040 | 0.750 | 4 | 2005 | 2013 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.710 | 1.000 | 4 | 2005 | 2011 | |||
|
3 | 0.882 | 0.240 | 6 | 32437082 | upstream gene variant | A/G | snv | 0.62 | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||
|
12 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.500 | 4 | 2012 | 2018 | |||
|
1 | 1.000 | 0.120 | 5 | 103273223 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.830 | 1.000 | 4 | 2009 | 2017 | ||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.040 | 0.500 | 4 | 2010 | 2018 | |||||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.040 | 0.250 | 4 | 2014 | 2019 | ||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.040 | 1.000 | 4 | 2011 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 60897715 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.040 | 0.500 | 4 | 2010 | 2017 | |||
|
1 | 1.000 | 0.120 | 2 | 186656533 | intron variant | C/A;G | snv | 0.28 | 0.040 | 0.750 | 4 | 2007 | 2014 | ||||
|
7 | 0.790 | 0.280 | 5 | 132301616 | intron variant | C/T | snv | 6.9E-02 | 0.040 | 0.500 | 4 | 2005 | 2015 | ||||
|
4 | 0.925 | 0.200 | 1 | 2622185 | intron variant | T/C | snv | 0.40 | 0.810 | 0.750 | 4 | 2008 | 2019 |