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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.040 | 0.750 | 4 | 1984 | 2004 | ||||
|
5 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 0.020 | 1.000 | 2 | 1984 | 1997 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.040 | 0.750 | 4 | 1993 | 2004 | |||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.030 | 0.667 | 3 | 1993 | 1997 | ||||
|
4 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.060 | 0.667 | 6 | 1995 | 2000 | |||
|
2 | 19 | 44948767 | missense variant | A/C | snv | 6.9E-04 | 7.0E-04 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.030 | 1.000 | 3 | 1998 | 2020 | ||||
|
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 | |||
|
9 | 0.790 | 0.200 | 19 | 44908705 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
7 | 0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
6 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 0.030 | 1.000 | 3 | 2000 | 2016 | |||
|
6 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 0.030 | 1.000 | 3 | 2000 | 2016 | |||||
|
2 | 1.000 | 0.080 | 8 | 19955901 | missense variant | T/G | snv | 1.2E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2000 | 2018 | |||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
5 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2001 | 2010 | ||||
|
6 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.030 | 1.000 | 3 | 2002 | 2007 | |||
|
1 | 17 | 63484413 | missense variant | C/G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.080 | 1.000 | 8 | 2003 | 2018 | ||||
|
1 | 8 | 54626835 | missense variant | A/T | snv | 0.34 | 0.33 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.020 | 0.500 | 2 | 2004 | 2012 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 2006 | 2016 |