| 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 | 0.240 | 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 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.030 | 1.000 | 3 | 2000 | 2006 | |||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.730 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.030 | 0.667 | 3 | 2003 | 2015 | |||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.030 | 0.333 | 3 | 2017 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 38075651 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.030 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 |
|
0.030 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 3 | 2008 | 2010 | |||||||||
|
0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 |
|
0.730 | 0.750 | 3 | 2008 | 2017 | ||||||||
|
0.827 | 0.160 | 8 | 127428925 | intron variant | C/T | snv | 0.45 |
|
0.030 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
0.851 | 0.120 | 12 | 102497908 | regulatory region variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2006 | 2015 | |||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.830 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 2 | 2013 | 2018 | |||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 127519444 | intergenic variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2012 | |||||||||
|
0.882 | 0.080 | 11 | 69167951 | intron variant | G/A | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2009 | 2015 |