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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.840 | 1.000 | 4 | 2008 | 2016 | |||||
|
2 | 0.882 | 0.160 | 6 | 137874014 | intron variant | G/T | snv | 0.13 | 0.740 | 1.000 | 4 | 2009 | 2017 | ||||
|
2 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.030 | 1.000 | 3 | 2012 | 2020 | ||||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.030 | 1.000 | 3 | 2010 | 2013 | ||||
|
9 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2007 | 2018 | |||||
|
1 | 1.000 | 0.120 | 6 | 137644281 | intergenic variant | G/A | snv | 0.24 | 0.030 | 0.667 | 3 | 2009 | 2016 | ||||
|
17 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 55171181 | synonymous variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.030 | 0.333 | 3 | 2005 | 2014 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.030 | 0.333 | 3 | 2005 | 2014 | ||||
|
20 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
5 | 0.827 | 0.160 | 13 | 42581032 | intron variant | G/A;C | snv | 0.030 | 0.333 | 3 | 2010 | 2019 | |||||
|
1 | 0.925 | 0.160 | 5 | 103261019 | intron variant | C/T | snv | 0.30 | 0.830 | 1.000 | 3 | 2010 | 2019 | ||||
|
21 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.830 | 1.000 | 3 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.830 | 1.000 | 3 | 2007 | 2019 | |||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.030 | 0.667 | 3 | 2011 | 2013 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 | ||||
|
17 | 0.701 | 0.560 | 6 | 52185988 | upstream gene variant | A/G | snv | 0.34 | 0.030 | 0.667 | 3 | 2015 | 2019 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.030 | 0.667 | 3 | 2013 | 2017 | ||||
|
6 | 0.807 | 0.280 | 16 | 11155472 | non coding transcript exon variant | G/A | snv | 0.66 | 0.030 | 0.667 | 3 | 2010 | 2010 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.030 | 0.667 | 3 | 2015 | 2017 | ||||
|
6 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 0.030 | 1.000 | 3 | 2009 | 2013 | ||||
|
29 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 0.030 | 0.667 | 3 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 156939170 | intron variant | G/A | snv | 0.28 | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||
|
17 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.730 | 1.000 | 3 | 2010 | 2012 |