| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.070 | 0.857 | 7 | 2003 | 2015 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.070 | 0.857 | 7 | 2004 | 2017 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.070 | 0.857 | 7 | 2004 | 2018 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.070 | 0.714 | 7 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 |
|
0.770 | 0.900 | 7 | 2008 | 2016 | ||||||||
|
0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 |
|
0.070 | 0.857 | 7 | 2000 | 2017 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.060 | 0.667 | 6 | 2007 | 2016 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.060 | 0.833 | 6 | 2007 | 2017 | |||||||
|
0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 |
|
0.760 | 0.857 | 6 | 2010 | 2016 | ||||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.060 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.827 | 0.120 | 8 | 16155085 | stop gained | G/A;C | snv | 8.3E-03; 2.8E-05 |
|
0.060 | 1.000 | 6 | 2004 | 2006 | ||||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.050 | 0.800 | 5 | 2010 | 2014 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.050 | 1.000 | 5 | 2005 | 2019 | |||||||
|
0.882 | 0.120 | 5 | 34004602 | missense variant | C/T | snv | 0.42 | 0.38 |
|
0.050 | 0.800 | 5 | 2002 | 2015 | |||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.667 | 5 | 2011 | 2015 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.050 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.050 | 0.800 | 5 | 2007 | 2019 | |||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.050 | 0.800 | 5 | 2012 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 |
|
0.050 | 0.800 | 5 | 2006 | 2018 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.050 | 0.600 | 5 | 2010 | 2018 | |||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.050 | 0.800 | 5 | 2010 | 2019 | ||||||||
|
0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 |
|
0.050 | 0.800 | 5 | 2007 | 2015 | ||||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
0.050 | 0.800 | 5 | 2012 | 2017 | ||||||||
|
0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 |
|
0.040 | 0.750 | 4 | 2002 | 2011 | ||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.040 | 1.000 | 4 | 2007 | 2014 |