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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.914 | 35 | 2007 | 2019 | |||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.100 | 0.690 | 29 | 1999 | 2015 | ||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.938 | 16 | 2008 | 2019 | |||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.100 | 1.000 | 14 | 2002 | 2015 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.727 | 11 | 2004 | 2016 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.090 | 0.778 | 9 | 2006 | 2014 | ||||||||
|
0.776 | 0.160 | 17 | 13011692 | missense variant | G/A;C | snv | 0.27 |
|
0.080 | 1.000 | 8 | 2002 | 2010 | ||||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.070 | 1.000 | 7 | 2008 | 2017 | |||||||||
|
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 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.060 | 0.667 | 6 | 2007 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
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 | ||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.740 | 1.000 | 6 | 2008 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 |
|
0.050 | 0.600 | 5 | 2001 | 2011 | ||||||||
|
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 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.750 | 4 | 2013 | 2018 | |||||||||
|
0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 |
|
0.040 | 1.000 | 4 | 2000 | 2004 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.730 | 0.750 | 4 | 2004 | 2018 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2008 | 2015 | ||||||||
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.040 | 0.500 | 4 | 2009 | 2015 | |||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.730 | 0.750 | 4 | 2004 | 2019 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.720 | 1.000 | 4 | 2013 | 2018 |