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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1998 | 2002 | |||||
|
6 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
5 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.200 | 14 | 105124634 | downstream gene variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.240 | 14 | 36519251 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
19 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.200 | 4 | 109576918 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.200 | 21 | 43055604 | 3 prime UTR variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 6 | 15463164 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.200 | 17 | 28398728 | 3 prime UTR variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 6 | 165071698 | intron variant | A/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 16 | 84869111 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.280 | 9 | 97854084 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.851 | 0.200 | 2 | 70450336 | 3 prime UTR variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.200 | 9 | 91906451 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.200 | 10 | 117075480 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 |