| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 |
|
0.840 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv |
|
0.840 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
0.830 | 1.000 | 3 | 2008 | 2010 | |||||||
|
0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv |
|
0.830 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 |
|
0.830 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 |
|
0.830 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 |
|
0.820 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv |
|
0.820 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 |
|
0.820 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 |
|
0.720 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.925 | 0.200 | 15 | 56048698 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
1.000 | 0.120 | 16 | 81912655 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2015 | |||||||||
|
1.000 | 0.120 | 16 | 81928578 | missense variant | A/C;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 1997 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 123484683 | intron variant | A/G | snv | 0.15 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2013 | 2019 | |||||||
|
0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv |
|
0.050 | 1.000 | 5 | 2015 | 2018 | |||||||||
|
0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2015 | 2018 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.040 | 1.000 | 4 | 2009 | 2012 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2007 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2019 |