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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 132864335 | missense variant | T/G | snv | 2.0E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | X | 50916386 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 5 | 132862366 | synonymous variant | T/C;G | snv | 8.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
2 | 0.925 | 0.080 | 12 | 6777854 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.240 | 3 | 138946383 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 48968759 | missense variant | T/C | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | X | 50916009 | missense variant | T/C | snv | 2.0E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 6 | 152007481 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 183125412 | missense variant | T/C | snv | 0.58 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 22 | 38538601 | missense variant | T/C | snv | 8.6E-03 | 3.5E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 32976773 | missense variant | T/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 162147505 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 19 | 55288961 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 33384348 | intron variant | T/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 2 | 200571796 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 129721066 | intron variant | G/T | snv | 0.94 | 0.710 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 0.882 | 0.200 | 19 | 2249478 | missense variant | G/T | snv | 0.77 | 0.74 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 6 | 31759476 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 6 | 139373341 | missense variant | G/T | snv | 1.6E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 |