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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 |
|
0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.944 | 89 | 2009 | 2020 | |||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.100 | 1.000 | 19 | 2015 | 2020 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.080 | 0.875 | 8 | 2011 | 2017 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 2005 | 2014 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.060 | 0.833 | 6 | 2006 | 2012 | |||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 0.667 | 3 | 1998 | 2009 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2001 | 2001 |