| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.060 | 1.000 | 6 | 2015 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.060 | 0.833 | 6 | 2012 | 2018 | |||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.050 | 0.600 | 5 | 2008 | 2017 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.050 | 0.800 | 5 | 2012 | 2018 | |||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.050 | 0.200 | 5 | 2012 | 2017 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.050 | 1.000 | 5 | 2011 | 2019 | |||||||
|
0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 |
|
0.050 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.040 | 1.000 | 4 | 2017 | 2018 | ||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.040 | 0.750 | 4 | 2011 | 2018 | ||||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | |||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.030 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.030 | 1.000 | 3 | 2019 | 2019 | |||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.030 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.030 | 0.667 | 3 | 2009 | 2019 | ||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.020 | 1.000 | 2 | 2005 | 2019 | |||||||
|
0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.020 | 0.500 | 2 | 2017 | 2019 |