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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 19 | 10338716 | synonymous variant | A/G | snv | 0.81 | 0.85 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 6 | 14636732 | intergenic variant | T/C | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2004 | 2011 | |||||||
|
0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
8 | 131467654 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.925 | 0.120 | 11 | 111352386 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 14 | 52274253 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
11 | 58292720 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |