| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.800 | 0.857 | 5 | 2007 | 2017 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.780 | 0.900 | 4 | 2005 | 2017 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.917 | 8 | 2007 | 2018 | |||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 |
|
0.700 | 0 | ||||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.720 | 0.667 | 1 | 2009 | 2014 | ||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.800 | 0.935 | 0 | 2012 | 2019 | |||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.720 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.800 | 0.950 | 3 | 2007 | 2018 | ||||||||
|
0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 |
|
0.710 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 |