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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2005 | 2013 | |||||
|
18 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2013 | ||||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.160 | 8 | 89934373 | 3 prime UTR variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.160 | 19 | 43570445 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.752 | 0.160 | 5 | 287899 | intron variant | T/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.615 | 13 | 2004 | 2016 | |||
|
6 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 0.770 | 0.889 | 9 | 2010 | 2017 | ||||
|
4 | 0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 | 0.740 | 1.000 | 8 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 | 0.720 | 1.000 | 3 | 2010 | 2014 | ||||
|
4 | 0.851 | 0.160 | 10 | 102901727 | 3 prime UTR variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
13 | 0.752 | 0.200 | 10 | 49470671 | missense variant | T/C | snv | 0.22 | 0.19 | 0.020 | 0.500 | 2 | 2007 | 2017 | |||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2005 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2012 |