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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.917 | 12 | 2010 | 2016 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.100 | 0.800 | 10 | 2010 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.090 | 1.000 | 9 | 2010 | 2019 | |||||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.060 | 0.833 | 6 | 2008 | 2018 | |||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.060 | 1.000 | 6 | 2009 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2012 | 2017 | |||||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
3 | 1.000 | 0.040 | 13 | 53051646 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 4 | 2016 | 2019 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.820 | 1.000 | 4 | 2013 | 2019 | |||||
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.040 | 10 | 67864422 | intergenic variant | G/A;C | snv | 0.720 | 1.000 | 3 | 2018 | 2019 | |||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.720 | 1.000 | 3 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.120 | 17 | 45818213 | intron variant | C/T | snv | 0.86 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 0.882 | 0.040 | 12 | 2311360 | intron variant | G/A | snv | 0.77 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 |