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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 200571796 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 9 | 124500191 | missense variant | C/T | snv | 3.3E-05 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 10 | 43114681 | missense variant | G/A | snv | 1.1E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 1 | 91698089 | missense variant | G/A | snv | 6.7E-03 | 6.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | X | 50916386 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 6 | 32976868 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2007 | |||
|
3 | 0.882 | 0.120 | X | 97043550 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 5 | 132862308 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 144399832 | missense variant | C/T | snv | 3.4E-04 | 2.9E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 7 | 144399847 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
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 | 5 | 132862366 | synonymous variant | T/C;G | snv | 8.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 33349101 | missense variant | G/A | snv | 0.21 | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | X | 119243160 | missense variant | A/G | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | |||
|
2 | 0.925 | 0.080 | 7 | 33345650 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 7 | 33384348 | intron variant | T/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 2 | 70790628 | missense variant | G/A;T | snv | 1.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.240 | 3 | 138946163 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.776 | 0.200 | 2 | 48983125 | missense variant | G/A | snv | 6.9E-04 | 5.8E-04 | 0.050 | 1.000 | 5 | 1998 | 2010 | |||
|
2 | 0.925 | 0.080 | 6 | 32976646 | missense variant | G/A | snv | 4.1E-06 | 0.030 | 0.667 | 3 | 2006 | 2010 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
6 | 0.827 | 0.240 | 3 | 138946383 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |