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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.160 | 15 | 63060899 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.800 | 1.000 | 28 | 1994 | 2019 | |||
|
5 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 0.760 | 1.000 | 6 | 2002 | 2019 | |||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.740 | 1.000 | 30 | 1997 | 2016 | ||||
|
4 | 0.851 | 0.080 | 14 | 23429278 | missense variant | C/A;G;T | snv | 0.740 | 1.000 | 26 | 1990 | 2018 | |||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.740 | 1.000 | 21 | 1992 | 2020 | ||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.740 | 1.000 | 17 | 1998 | 2019 | |||||
|
8 | 0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv | 0.730 | 1.000 | 18 | 1994 | 2020 | |||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.730 | 1.000 | 16 | 1992 | 2010 | ||||
|
5 | 0.827 | 0.120 | 11 | 47348424 | missense variant | C/T | snv | 1.7E-05 | 4.2E-05 | 0.720 | 1.000 | 33 | 1998 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23425971 | missense variant | G/A | snv | 7.0E-06 | 0.720 | 1.000 | 30 | 1994 | 2018 | ||||
|
4 | 0.851 | 0.080 | 14 | 23429005 | missense variant | G/A;C;T | snv | 0.720 | 1.000 | 25 | 1992 | 2018 | |||||
|
5 | 0.851 | 0.080 | 14 | 23424839 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.720 | 1.000 | 16 | 1995 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424107 | missense variant | G/C | snv | 1.4E-05 | 0.720 | 1.000 | 13 | 1992 | 2017 | ||||
|
5 | 0.827 | 0.080 | 11 | 47342698 | missense variant | G/A | snv | 4.0E-05 | 9.8E-05 | 0.720 | 1.000 | 8 | 2003 | 2018 | |||
|
6 | 0.807 | 0.120 | 7 | 151560610 | missense variant | C/A;T | snv | 0.720 | 1.000 | 5 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.040 | 1 | 26058482 | stop gained | G/A;C | snv | 7.0E-04; 5.6E-05 | 0.720 | 0.500 | 2 | 2012 | 2014 | ||||
|
5 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 0.720 | 1.000 | 2 | 2008 | 2010 | ||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 39 | 2002 | 2017 | |||
|
5 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.710 | 1.000 | 22 | 1996 | 2016 | |||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 13 | 2003 | 2013 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425970 | missense variant | C/G;T | snv | 0.710 | 1.000 | 13 | 1994 | 2017 | |||||
|
4 | 0.851 | 0.080 | 3 | 52453993 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 12 | 2008 | 2018 | ||||
|
4 | 0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv | 0.710 | 1.000 | 12 | 1999 | 2017 | |||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.710 | 1.000 | 11 | 1996 | 2016 | ||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.710 | 1.000 | 11 | 1995 | 2016 |