Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.938 | 32 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.938 | 32 | 2004 | 2019 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.800 | 10 | 1997 | 2004 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2004 | 2014 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.060 | 1.000 | 6 | 2012 | 2015 | |||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.050 | 1.000 | 5 | 2008 | 2016 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2005 | 2009 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2017 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 0.667 | 3 | 2005 | 2010 | |||||
|
8 | 0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2015 | 2018 | |||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2011 | 2016 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 7 | 5987422 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 12 | 47879066 | missense variant | A/C;G | snv | 4.0E-06; 1.9E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 |