| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv |
|
0.030 | 0.667 | 3 | 2011 | 2018 | |||||||||
|
0.925 | 0.120 | 6 | 31468056 | non coding transcript exon variant | C/G | snv | 7.7E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 32978543 | intergenic variant | G/T | snv | 0.73 |
|
0.810 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.030 | 0.667 | 3 | 2011 | 2018 | |||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | ||||||||
|
0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.882 | 0.160 | 1 | 65058899 | intron variant | C/G;T | snv | 0.65 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 130371771 | 3 prime UTR variant | C/T | snv | 0.50 |
|
0.020 | 0.500 | 2 | 2013 | 2017 | ||||||||
|
0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2004 | 2016 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2005 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.810 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.810 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.020 | 1.000 | 2 | 2017 | 2018 |