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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.050 | 1.000 | 5 | 2009 | 2014 | ||||
|
4 | 0.882 | 0.120 | 15 | 78636604 | intron variant | G/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
5 | 0.882 | 0.120 | 19 | 40804666 | non coding transcript exon variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
4 | 0.925 | 0.120 | 8 | 42695355 | upstream gene variant | C/T | snv | 0.64 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
8 | 0.851 | 0.160 | 15 | 78615314 | intron variant | T/C | snv | 0.29 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.080 | 15 | 78552014 | 3 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 49621173 | intron variant | A/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 186830478 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 50443116 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 84849437 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 9 | 99865020 | 3 prime UTR variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 84789171 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 49639951 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 232532815 | intron variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 89013167 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 7 | 50482446 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.925 | 0.120 | 15 | 78603787 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 8 | 42688874 | intergenic variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 42694839 | upstream gene variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 |