| 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 | 0.120 | 19 | 55368504 | synonymous variant | C/G;T | snv | 4.1E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 55364706 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.320 | 4 | 87983034 | 3 prime UTR variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 8 | 41263761 | 3 prime UTR variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 31815123 | missense variant | G/A;T | snv | 4.5E-03; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 113730350 | 3 prime UTR variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.200 | 21 | 44250907 | missense variant | C/T | snv | 3.5E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 160439163 | synonymous variant | C/T | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 78357871 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 50869478 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 25234839 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 39657603 | intron variant | G/C | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.200 | 2 | 54252062 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 |