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 | 0.240 | 1 | 241889740 | 3 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.080 | 9 | 131076637 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.120 | 3 | 119993874 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 9 | 99150189 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
6 | 0.851 | 0.160 | 9 | 35679254 | missense variant | A/G;T | snv | 8.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
38 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 19 | 29824205 | 3 prime UTR variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
9 | 0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.200 | 11 | 122155752 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.200 | 14 | 103698934 | missense variant | C/A;T | snv | 4.5E-06; 4.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
9 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |