| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | < 0.001 | 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 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 2 | 113131082 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.360 | 16 | 13948101 | synonymous variant | T/C | snv | 0.27 | 0.25 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 2 | 113063237 | 3 prime UTR variant | C/G | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 113062899 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 2 | 113063003 | 3 prime UTR variant | C/A | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |