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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 30 | 2008 | 2019 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 18 | 2008 | 2018 | ||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.800 | 1.000 | 14 | 2002 | 2015 | |||||||||
|
0.776 | 0.160 | 17 | 13011692 | missense variant | G/A;C | snv | 0.27 |
|
0.090 | 1.000 | 9 | 2002 | 2010 | ||||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 9 | 2008 | 2017 | ||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.740 | 1.000 | 8 | 2008 | 2015 | |||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.740 | 1.000 | 8 | 2008 | 2018 | ||||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.070 | 1.000 | 7 | 2008 | 2017 | |||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 7 | 2010 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 |
|
0.710 | 1.000 | 7 | 2007 | 2013 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 6 | 2010 | 2014 | |||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 8 | 127506309 | regulatory region variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 6 | 2008 | 2013 | ||||||||
|
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 | |||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 5 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.730 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.050 | 1.000 | 5 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.120 | 22 | 28725031 | missense variant | G/A | snv | 1.0E-03 | 5.5E-04 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | |||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.040 | 1.000 | 4 | 2007 | 2014 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.040 | 1.000 | 4 | 2007 | 2013 |