| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv |
|
0.840 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 |
|
0.840 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv |
|
0.830 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 |
|
0.830 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 |
|
0.720 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.320 | 6 | 32289789 | intron variant | G/A | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 |
|
0.830 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
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 | ||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 32658495 | upstream gene variant | C/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 417727 | intergenic variant | A/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.200 | 16 | 85910833 | intron variant | A/G;T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
0.830 | 1.000 | 1 | 2008 | 2010 | |||||||
|
0.882 | 0.160 | 9 | 22206988 | intron variant | C/A;T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 |
|
0.820 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.925 | 0.120 | 15 | 56483399 | intergenic variant | A/G | snv | 8.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 19 | 46765116 | intron variant | G/T | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 2 | 110858527 | intron variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |