| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.320 | 12 | 25225627 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 7 | 5987422 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 42323198 | intron variant | C/T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 14 | 70727436 | 3 prime UTR variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 12 | 47879066 | missense variant | A/C;G | snv | 4.0E-06; 1.9E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 3 | 12622336 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |