| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 5 | 110840429 | intergenic variant | G/T | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 |
|
0.100 | 0.917 | 12 | 2003 | 2019 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.060 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 |
|
0.060 | 1.000 | 6 | 2000 | 2019 | |||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.060 | 0.833 | 6 | 2012 | 2019 | |||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.040 | 1.000 | 4 | 2007 | 2018 | |||||||
|
0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2003 | 2014 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.040 | 1.000 | 4 | 1999 | 2014 | |||||||
|
0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.020 | 0.500 | 2 | 2010 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 16024780 | missense variant | A/C;G | snv | 0.55 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||
|
0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.925 | 0.040 | 12 | 54581014 | missense variant | C/T | snv | 4.6E-03 | 1.9E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||
|
0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.925 | 0.040 | 17 | 66310015 | intron variant | C/T | snv | 0.59 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.882 | 0.120 | 2 | 646364 | intergenic variant | T/A | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 13 | 37599679 | upstream gene variant | A/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |