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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | |||||
|
33 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
21 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
11 | 0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2005 | 2006 | ||||
|
10 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 0.120 | 4 | 164987569 | non coding transcript exon variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
8 | 0.776 | 0.160 | 7 | 74059952 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
10 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2012 | ||||
|
6 | 0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
8 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
11 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 0.020 | 1.000 | 2 | 1999 | 2009 | |||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
7 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||
|
8 | 0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 |