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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.900 | 0.889 | 18 | 2008 | 2019 | |||||
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.900 | 0.941 | 17 | 2007 | 2019 | ||||
|
7 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 0.860 | 0.941 | 17 | 2007 | 2018 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.900 | 1.000 | 17 | 2007 | 2018 | ||||
|
8 | 0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv | 0.800 | 0.941 | 17 | 2007 | 2019 | |||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.100 | 0.667 | 15 | 2007 | 2015 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.933 | 15 | 1997 | 2017 | |||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.100 | 1.000 | 14 | 2009 | 2019 | |||||
|
12 | 0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 | 0.890 | 0.929 | 14 | 2008 | 2017 | ||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.900 | 1.000 | 13 | 2007 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.100 | 0.923 | 13 | 2009 | 2019 | |||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.100 | 0.538 | 13 | 1995 | 2005 | |||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.900 | 0.923 | 13 | 2009 | 2018 | ||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.800 | 0.917 | 12 | 2006 | 2020 | |||||
|
8 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 0.917 | 12 | 2000 | 2011 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.833 | 12 | 2001 | 2016 | |||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.100 | 1.000 | 12 | 2000 | 2017 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.100 | 1.000 | 12 | 2001 | 2016 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 1.000 | 12 | 1996 | 2019 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.100 | 1.000 | 11 | 2000 | 2017 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.818 | 11 | 2001 | 2016 | |||
|
6 | 0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 | 0.880 | 1.000 | 11 | 2008 | 2019 | ||||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.100 | 0.909 | 11 | 2007 | 2017 | |||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.870 | 1.000 | 11 | 2009 | 2019 |