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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 |
|
0.900 | 0.923 | 1 | 2009 | 2018 | ||||||||
|
0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv |
|
0.880 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.870 | 0.900 | 1 | 2006 | 2020 | |||||||||
|
1.000 | 0.080 | 10 | 119389891 | intron variant | C/T | snv | 0.39 |
|
0.850 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 |
|
0.850 | 1.000 | 1 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 1 | 2004 | 2018 | |||||||
|
1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 |
|
0.840 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.200 | 12 | 71269322 | intron variant | C/T | snv | 0.75 |
|
0.840 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.851 | 0.160 | 11 | 41893816 | intergenic variant | C/A | snv | 9.8E-02 |
|
0.840 | 1.000 | 1 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv |
|
0.840 | 1.000 | 1 | 2010 | 2016 | |||||||||
|
1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 |
|
0.830 | 0.750 | 1 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 64062621 | intergenic variant | T/C | snv | 0.81 |
|
0.830 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 127606849 | downstream gene variant | G/A | snv | 0.23 |
|
0.820 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 15 | 62112183 | regulatory region variant | C/T | snv | 0.30 |
|
0.820 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.925 | 0.080 | 9 | 8879118 | intron variant | C/T | snv | 0.14 |
|
0.820 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.851 | 0.280 | 6 | 31168676 | intron variant | A/G | snv | 0.78 |
|
0.820 | 0.750 | 1 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 33402102 | intron variant | A/G | snv | 0.45 |
|
0.820 | 0.667 | 1 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 17 | 2312964 | intron variant | T/C | snv | 0.58 |
|
0.820 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 20657634 | intron variant | A/G | snv | 0.40 |
|
0.820 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 134722410 | non coding transcript exon variant | G/T | snv | 0.72 |
|
0.820 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2007 | 2012 | ||||||||
|
1.000 | 0.080 | 15 | 77485290 | 3 prime UTR variant | C/T | snv | 0.43 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.080 | 15 | 38530704 | intron variant | T/C;G | snv | 0.77 |
|
0.820 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
0.882 | 0.160 | 6 | 43844025 | downstream gene variant | C/T | snv | 0.24 |
|
0.820 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
1.000 | 0.080 | 13 | 23290518 | intron variant | G/A | snv | 1.2E-02 |
|
0.820 | 1.000 | 1 | 2013 | 2017 |