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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 14 | 2011 | 2019 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.080 | 1.000 | 8 | 2013 | 2018 | |||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.740 | 1.000 | 5 | 2013 | 2017 | |||||
|
10 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 0.730 | 1.000 | 5 | 2010 | 2018 | ||||
|
14 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2013 | 2017 | |||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.040 | 1.000 | 4 | 2015 | 2017 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 3 | 2015 | 2018 | ||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2020 | |||||
|
16 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 0.710 | 1.000 | 3 | 2013 | 2018 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2011 | 2020 | |||||
|
4 | 0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
7 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||
|
15 | 0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.020 | 1.000 | 2 | 2016 | 2020 | ||||
|
6 | 0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.882 | 0.040 | 7 | 55067179 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2009 | 2016 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
5 | 0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
5 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |