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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 |
|
0.090 | 1.000 | 9 | 1998 | 2019 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.090 | 0.778 | 9 | 2004 | 2014 | |||||||
|
0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 |
|
0.090 | 0.889 | 9 | 2006 | 2018 | |||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.890 | 0.933 | 9 | 2005 | 2019 | |||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.790 | 1.000 | 9 | 2001 | 2019 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.090 | 0.667 | 9 | 2003 | 2014 | |||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
0.080 | 0.875 | 8 | 2012 | 2019 | ||||||||
|
0.827 | 0.120 | 11 | 1761364 | missense variant | G/A | snv | 7.0E-02 | 6.2E-02 |
|
0.080 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.080 | 0.875 | 8 | 2000 | 2015 | ||||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 1998 | 2018 | ||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 |
|
0.080 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
0.080 | 1.000 | 8 | 2002 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.080 | 1.000 | 8 | 2003 | 2019 | |||||||||
|
0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2002 | 2014 | |||||||
|
0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 |
|
0.880 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.882 | 0.080 | 10 | 49616573 | missense variant | G/A | snv | 0.21 | 0.18 |
|
0.070 | 0.857 | 7 | 2005 | 2018 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 0.714 | 7 | 2002 | 2017 | |||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.070 | 1.000 | 7 | 2007 | 2018 | ||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.070 | 1.000 | 7 | 2000 | 2014 | |||||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2008 | ||||||||
|
0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 |
|
0.060 | 0.833 | 6 | 2013 | 2019 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.060 | 1.000 | 6 | 2007 | 2019 | |||||||
|
0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2014 |