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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.850 | 1.000 | 23 | 1988 | 2018 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.850 | 1.000 | 5 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 155235841 | missense variant | G/C | snv | 0.810 | 1.000 | 23 | 1990 | 2009 | |||||
|
6 | 0.807 | 0.120 | 1 | 155238215 | missense variant | T/C | snv | 7.2E-05 | 1.0E-04 | 0.810 | 1.000 | 21 | 1990 | 2006 | |||
|
10 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 0.810 | 1.000 | 11 | 1993 | 2017 | |||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.800 | 1.000 | 29 | 1990 | 2014 | ||||
|
8 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 0.800 | 1.000 | 26 | 1989 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 155238519 | missense variant | T/G | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 155237357 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 155238624 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 155238144 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 155235057 | missense variant | C/T | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
2 | 1.000 | 0.120 | 1 | 155240033 | missense variant | C/A | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 155236416 | missense variant | C/A | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
1 | 1.000 | 0.120 | 1 | 155236261 | missense variant | C/G | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2009 | ||||
|
5 | 0.827 | 0.120 | 1 | 155235823 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2009 | |||
|
2 | 0.925 | 0.120 | 1 | 155239716 | missense variant | C/G | snv | 0.800 | 1.000 | 22 | 1990 | 2009 | |||||
|
2 | 0.925 | 0.120 | 1 | 155236384 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 22 | 1990 | 2009 | ||||
|
2 | 0.925 | 0.120 | 1 | 155239939 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2009 | ||||
|
1 | 1.000 | 0.120 | 1 | 155236426 | missense variant | G/A;C | snv | 2.8E-05 | 0.800 | 1.000 | 22 | 1990 | 2009 | ||||
|
4 | 0.851 | 0.120 | 1 | 155238228 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 0.800 | 1.000 | 20 | 1990 | 2006 | |||
|
7 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 0.800 | 1.000 | 20 | 1990 | 2006 | |||||
|
3 | 0.925 | 0.160 | 1 | 155237474 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 11 | 1996 | 2014 | ||||
|
13 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 0.800 | 1.000 | 9 | 1990 | 2010 | |||
|
2 | 0.925 | 0.120 | 1 | 155239934 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 2008 | 2009 |