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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 |
|
0.720 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 1 | 2013 | 2018 | |||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.500 | 1 | 2013 | 2018 | ||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 1 | 2008 | 2012 | |||||||||
|
0.925 | 0.080 | 2 | 20688505 | intron variant | A/G | snv | 0.20 |
|
0.720 | 1.000 | 1 | 2010 | 2014 | ||||||||
|
0.882 | 0.160 | 2 | 43326810 | intron variant | T/C | snv | 0.80 |
|
0.720 | 0.667 | 1 | 2009 | 2016 | ||||||||
|
0.882 | 0.160 | 8 | 127308101 | intron variant | A/G | snv | 0.15 |
|
0.720 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 41568689 | intron variant | C/T | snv | 0.35 |
|
0.720 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 37746322 | upstream gene variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 10 | 125008303 | intron variant | T/C | snv | 0.23 |
|
0.720 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.882 | 0.160 | X | 51498820 | non coding transcript exon variant | C/T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.720 | 0.667 | 1 | 2009 | 2014 | ||||||||
|
0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv |
|
0.720 | 1.000 | 0 | 1997 | 2007 | |||||||||
|
0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 |
|
0.710 | 1.000 | 6 | 2007 | 2013 | ||||||||
|
0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 |
|
0.710 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 |
|
0.710 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 237534583 | missense variant | A/G | snv | 0.28 | 0.34 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.710 | 0.500 | 1 | 2008 | 2011 | ||||||||
|
0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 |
|
0.710 | 1.000 | 1 | 2008 | 2012 |