| 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 | 0.120 | 10 | 62710915 | intron variant | C/A;T | snv | 0.34 |
|
0.810 | 0.667 | 2 | 2007 | 2019 | ||||||||
|
0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 |
|
0.820 | 0.667 | 1 | 2008 | 2020 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.720 | 0.667 | 1 | 2010 | 2017 | |||||||
|
0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 |
|
0.830 | 0.750 | 1 | 2008 | 2014 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.800 | 4 | 2005 | 2016 | |||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.850 | 0.875 | 3 | 2008 | 2017 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 0.895 | 1 | 2004 | 2017 | ||||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 3 | 2005 | 2019 | ||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 1 | 2001 | 2018 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.944 | 6 | 2006 | 2020 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 1 | 2001 | 2019 | ||||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
0.900 | 0.961 | 2 | 2007 | 2020 | |||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 5 | 2010 | 2017 | |||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.830 | 1.000 | 5 | 2008 | 2017 | |||||||
|
0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 |
|
0.810 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 |
|
0.800 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 |
|
0.800 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 |
|
0.810 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv |
|
0.820 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
0.827 | 0.120 | 19 | 46346549 | upstream gene variant | G/T | snv | 0.21 |
|
0.800 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 |