| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 10 | 1989 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.900 | 10 | 2006 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 9 | 1989 | 2018 | |||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 1989 | 2014 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 9 | 2002 | 2016 | ||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 9 | 1995 | 2011 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 1997 | 2014 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1995 | 2011 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 0.875 | 8 | 2005 | 2018 | ||||||||
|
0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv |
|
0.070 | 1.000 | 7 | 2013 | 2019 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 | |||||||||
|
0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 |
|
0.070 | 0.857 | 7 | 2001 | 2018 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.070 | 1.000 | 7 | 1997 | 2015 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2007 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 6 | 1986 | 2019 | |||||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.750 | 0.833 | 6 | 2008 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 89689495 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 6 | 2009 | 2017 | |||||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
0.060 | 0.667 | 6 | 2002 | 2011 | ||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.750 | 1.000 | 5 | 1995 | 2015 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.740 | 0.600 | 5 | 2003 | 2014 | |||||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 5 | 2011 | 2014 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2009 | 2014 | ||||||||
|
0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 5 | 2009 | 2015 |