| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.967 | 23 | 2007 | 2017 | ||||||||
|
0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 |
|
0.100 | 0.889 | 18 | 2006 | 2019 | ||||||||
|
0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 |
|
0.090 | 1.000 | 9 | 2007 | 2017 | ||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.890 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv |
|
0.880 | 1.000 | 8 | 2009 | 2019 | |||||||||
|
0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv |
|
0.080 | 0.875 | 8 | 2010 | 2019 | |||||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.870 | 1.000 | 7 | 2009 | 2019 | ||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.770 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 |
|
0.060 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 |
|
0.060 | 1.000 | 6 | 2006 | 2017 | ||||||||
|
0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2008 | 2013 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 0.400 | 5 | 2012 | 2016 | ||||||||
|
0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 |
|
0.850 | 1.000 | 5 | 2008 | 2017 | ||||||||
|
0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 |
|
0.050 | 0.600 | 5 | 2007 | 2017 | ||||||||
|
0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2019 | |||||||||
|
0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 |
|
0.840 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 |
|
0.740 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 |
|
0.840 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.830 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2008 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2018 | 2019 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.030 | 0.333 | 3 | 2012 | 2015 |