| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 2 | 8802974 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 9 | 121803541 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 19 | 51623777 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 2 | 218136243 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 14 | 75347325 | intergenic variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 15 | 78813008 | intron variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 233584238 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 88159953 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 4 | 189616909 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.040 | 7 | 135816721 | intron variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 111203694 | intergenic variant | G/A | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |