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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.720 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.925 | 0.080 | 2 | 237534583 | missense variant | A/G | snv | 0.28 | 0.34 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 6 | 31150734 | missense variant | T/G | snv | 0.23 | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.667 | 1 | 2011 | 2015 | |||||||
|
1.000 | 0.080 | 5 | 140661602 | non coding transcript exon variant | G/A | snv | 4.4E-03 | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 140836371 | missense variant | C/G | snv | 4.4E-03 | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 140807616 | synonymous variant | G/A;C;T | snv | 4.0E-06; 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 141339183 | missense variant | G/T | snv | 3.4E-03 | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 6 | 6266621 | missense variant | C/T | snv | 1.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.917 | 8 | 2007 | 2018 | |||||||||
|
0.882 | 0.160 | 8 | 127506309 | regulatory region variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 6 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 |
|
0.710 | 1.000 | 6 | 2007 | 2013 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.800 | 0.857 | 5 | 2007 | 2017 | ||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.740 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.740 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 |
|
0.710 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.800 | 0.950 | 3 | 2007 | 2018 | ||||||||
|
0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 |
|
0.770 | 0.900 | 3 | 2008 | 2016 |