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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 10 | 45373723 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
8 | 0.807 | 0.160 | 15 | 67166301 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
11 | 0.763 | 0.360 | 19 | 7668907 | upstream gene variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
10 | 0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
7 | 0.807 | 0.160 | 9 | 104825752 | missense variant | C/T | snv | 8.2E-02 | 5.5E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
17 | 0.724 | 0.280 | 7 | 128241296 | 5 prime UTR variant | G/A | snv | 0.37 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 3 | 186620038 | intron variant | T/C | snv | 0.46 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
6 | 0.827 | 0.120 | 19 | 11113585 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 8 | 58505103 | upstream gene variant | A/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 10 | 113041766 | intron variant | G/A | snv | 0.53 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.120 | 6 | 16145094 | missense variant | A/G | snv | 0.60 | 0.63 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
7 | 0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv | 0.810 | 0.500 | 2 | 2011 | 2014 | |||||
|
10 | 0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 | 0.020 | 0.500 | 2 | 2012 | 2013 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2008 | 2010 | |||||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.040 | 0.750 | 4 | 2010 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.778 | 9 | 2002 | 2012 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.818 | 11 | 1999 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2000 | 2013 |