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 | 0.200 | X | 53199068 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 17 | 17795278 | frameshift variant | GGCAT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 9 | 137162209 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 53239213 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 48903017 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 29917576 | frameshift variant | TTGGGAAAGT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | X | 71169399 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 54002150 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 18 | 55350388 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 53211601 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 120547154 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.030 | 1.000 | 3 | 2002 | 2005 | ||||
|
3 | 0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.200 | 19 | 13919876 | synonymous variant | T/C | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
4 | 0.882 | 0.240 | X | 111194402 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 |