Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 |
|
0.810 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 143413669 | intron variant | G/A | snv | 0.42 |
|
0.810 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 127130409 | regulatory region variant | C/A | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 154426241 | intron variant | A/T | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 |
|
0.810 | 1.000 | 1 | 2010 | 2019 | |||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 207612944 | intron variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 15 | 64433291 | intron variant | T/C | snv | 1.6E-02 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.925 | 0.120 | 4 | 55802265 | downstream gene variant | A/G | snv | 0.23 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 11678309 | upstream gene variant | A/G | snv | 0.31 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 32610753 | intergenic variant | C/A | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 78285357 | intron variant | C/A;G | snv |
|
0.710 | 1.000 | 1 | 2007 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 178380259 | intron variant | C/T | snv | 0.24 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 207629207 | intron variant | A/C | snv | 0.87 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 3929424 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 19 | 44919589 | downstream gene variant | G/A | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 60179779 | missense variant | C/T | snv | 0.59 | 0.57 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | |||||||
|
0.925 | 0.080 | 3 | 67406609 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 1 | 1991 | 2005 | |||||||||
|
0.925 | 0.080 | 21 | 25891765 | missense variant | A/G | snv |
|
0.710 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 41368363 | regulatory region variant | G/A | snv | 5.8E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 78334025 | intron variant | G/C | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 22 | 41822852 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2019 |