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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 8 | 19955993 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.020 | 1.000 | 2 | 1996 | 2020 | ||||
|
8 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.040 | 1.000 | 4 | 1997 | 1999 | ||||
|
3 | 0.925 | 0.120 | 8 | 19962134 | missense variant | G/A | snv | 6.0E-05 | 2.1E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.030 | 1.000 | 3 | 1999 | 2011 | |||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.100 | 0.800 | 10 | 2000 | 2020 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.100 | 0.800 | 10 | 2000 | 2020 | |||||
|
3 | 0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2000 | 2020 | |||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.040 | 1.000 | 4 | 2000 | 2010 | ||||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2014 | ||||
|
2 | 0.925 | 0.040 | 7 | 142750579 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2000 | 2006 | |||||
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.160 | 7 | 117540237 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.100 | 0.889 | 18 | 2001 | 2020 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2001 | 2011 | ||||
|
8 | 0.827 | 0.040 | 7 | 142751919 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 0.020 | 1.000 | 2 | 2001 | 2005 | ||||
|
1 | 1.000 | 0.040 | 5 | 147824702 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2001 | 2003 | |||
|
3 | 0.882 | 0.040 | 7 | 142751937 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 7 | 142751775 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 |