| 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 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv |
|
0.720 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 |
|
0.720 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.882 | 0.080 | 12 | 130739483 | intergenic variant | T/C | snv | 0.97 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 69955727 | intergenic variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 33057663 | TF binding site variant | T/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 6 | 31422007 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.120 | 13 | 29985289 | intergenic variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.020 | < 0.001 | 2 | 2014 | 2017 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 16 | 53493869 | non coding transcript exon variant | G/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 16 | 53492639 | non coding transcript exon variant | C/T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 112838623 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
1.000 | 0.080 | 5 | 112838434 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 22 | 39081118 | synonymous variant | T/C | snv | 0.37 | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.120 | X | 108094263 | intron variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 18 | 63127447 | 3 prime UTR variant | C/T | snv | 6.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
0.827 | 0.120 | 17 | 61685986 | missense variant | A/G | snv | 0.60 | 0.61 |
|
0.020 | 1.000 | 2 | 2013 | 2018 |