| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 8 | 127649850 | intergenic variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 5 | 143438741 | upstream gene variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 21 | 42317828 | upstream gene variant | G/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.750 | 4 | 2008 | 2017 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 88131886 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 10 | 88981502 | intron variant | T/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.200 | 2 | 54252062 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.280 | 2 | 54269620 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 4 | 2915035 | missense variant | C/G;T | snv | 0.20 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 4 | 99307788 | 3 prime UTR variant | T/C | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 4 | 99344800 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2014 |