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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.060 | 1.000 | 6 | 2002 | 2017 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2017 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2001 | 2017 | ||||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2014 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.030 | 1.000 | 3 | 2001 | 2017 | |||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 12 | 120979040 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 1 | 15440524 | stop gained | G/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 12 | 120979073 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 7 | 117592427 | missense variant | G/A;T | snv | 1.8E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
8 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |