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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.870 | 0.900 | 7 | 2006 | 2020 | |||||||||
|
0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 |
|
0.860 | 0.941 | 6 | 2007 | 2018 | |||||||
|
1.000 | 0.080 | 10 | 119389891 | intron variant | C/T | snv | 0.39 |
|
0.850 | 1.000 | 5 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
0.850 | 1.000 | 5 | 2001 | 2013 | ||||||||
|
0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 |
|
0.850 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 5 | 2004 | 2018 | |||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.840 | 0.875 | 4 | 2010 | 2018 | ||||||||
|
0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 |
|
0.840 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 |
|
0.840 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.120 | 3 | 64726228 | intron variant | C/T | snv | 0.28 |
|
0.840 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 |
|
0.840 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 1316113 | intron variant | C/G;T | snv |
|
0.840 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
0.840 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv |
|
0.840 | 0.889 | 4 | 2010 | 2018 | |||||||||
|
0.827 | 0.200 | 12 | 71269322 | intron variant | C/T | snv | 0.75 |
|
0.840 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.851 | 0.160 | 11 | 41893816 | intergenic variant | C/A | snv | 9.8E-02 |
|
0.840 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv |
|
0.840 | 1.000 | 4 | 2010 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 39316274 | missense variant | G/T | snv | 0.51 | 0.60 |
|
0.830 | 1.000 | 3 | 2011 | 2019 | |||||||
|
1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 |
|
0.830 | 0.750 | 3 | 2008 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 |
|
0.830 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 |
|
0.830 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
0.830 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 64062621 | intergenic variant | T/C | snv | 0.81 |
|
0.830 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 |
|
0.830 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 127606849 | downstream gene variant | G/A | snv | 0.23 |
|
0.820 | 1.000 | 2 | 2013 | 2018 |