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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.040 | 1.000 | 4 | 2003 | 2010 | ||||
|
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 | |||
|
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 | |||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 1.000 | 31 | 1990 | 2014 | |||
|
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 | |||
|
8 | 0.776 | 0.160 | 1 | 155240629 | splice donor variant | C/A;T | snv | 7.6E-05 | 0.700 | 1.000 | 5 | 1992 | 2014 | ||||
|
8 | 0.776 | 0.160 | 1 | 155237453 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
9 | 0.790 | 0.160 | 1 | 155235195 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
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 | |||
|
7 | 0.807 | 0.160 | 1 | 155235726 | missense variant | T/A | snv | 0.800 | 1.000 | 20 | 1990 | 2006 | |||||
|
6 | 0.807 | 0.120 | 1 | 155238192 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
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 | |||
|
5 | 0.827 | 0.120 | 1 | 155236298 | missense variant | C/G | snv | 0.800 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 1 | 155238270 | missense variant | G/A | snv | 1.3E-05 | 0.800 | 0 | |||||||
|
5 | 0.827 | 0.120 | 1 | 155238174 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.800 | 0 | ||||||
|
4 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2006 | ||||
|
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 | |||
|
4 | 0.851 | 0.120 | 1 | 155237576 | missense variant | A/T | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 2008 | 2009 | |||
|
4 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 1 | 155238629 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.710 | 1.000 | 1 | 2004 | 2004 |