| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.900 | 1.000 | 15 | 2008 | 2019 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 13 | 2002 | 2019 | |||||||
|
0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 |
|
0.900 | 1.000 | 12 | 2008 | 2019 | ||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.900 | 1.000 | 12 | 2008 | 2019 | ||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.900 | 1.000 | 11 | 2007 | 2018 | ||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 11 | 2008 | 2019 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.100 | 1.000 | 10 | 2004 | 2019 | |||||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.080 | 1.000 | 8 | 2012 | 2019 | ||||||||
|
0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 |
|
0.780 | 1.000 | 8 | 2007 | 2018 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.080 | 1.000 | 8 | 2005 | 2016 | |||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.080 | 1.000 | 8 | 2007 | 2014 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.070 | 1.000 | 7 | 2008 | 2017 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | ||||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.070 | 1.000 | 7 | 2003 | 2019 | ||||||||
|
0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 |
|
0.870 | 1.000 | 7 | 2008 | 2016 | ||||||||
|
0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 |
|
0.860 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2007 | 2018 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.050 | 1.000 | 5 | 2005 | 2015 | |||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.050 | 1.000 | 5 | 2014 | 2019 | ||||||||
|
0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 |
|
0.050 | 1.000 | 5 | 2002 | 2008 | ||||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
0.850 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.840 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.840 | 1.000 | 4 | 2010 | 2014 | |||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.040 | 1.000 | 4 | 2008 | 2013 | |||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.040 | 1.000 | 4 | 2011 | 2015 |