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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.100 | 0.880 | 25 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.040 | 15 | 67078107 | intron variant | G/A | snv | 0.45 | 0.040 | 1.000 | 4 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 10 | 126093840 | intron variant | C/A;T | snv | 0.040 | 0.750 | 4 | 2009 | 2017 | |||||
|
5 | 0.827 | 0.200 | 14 | 90397013 | intron variant | C/A;G;T | snv | 0.030 | 0.333 | 3 | 2008 | 2018 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.040 | 20 | 47466905 | intergenic variant | G/A | snv | 5.0E-02 | 0.720 | 1.000 | 3 | 2014 | 2018 | ||||
|
6 | 0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 2014 | 2018 | |||||
|
3 | 0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 | 0.710 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.020 | 0.500 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 111040905 | upstream gene variant | C/T | snv | 0.18 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
1 | 1.000 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
4 | 0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2012 | 2018 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
3 | 0.925 | 0.040 | 22 | 32838944 | intron variant | G/A | snv | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
7 | 0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 | 0.020 | 0.500 | 2 | 2010 | 2011 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 181487841 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 245587630 | intron variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 |