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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.200 | 19 | 3604731 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 19 | 3626924 | upstream gene variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 19 | 3589341 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.200 | 2 | 88126256 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
20 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
14 | 0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 13 | 30735693 | intron variant | C/A | snv | 0.41 | 0.47 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.827 | 0.120 | 6 | 117301070 | missense variant | C/G;T | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.827 | 0.200 | 7 | 99770202 | missense variant | T/A;C | snv | 4.1E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.851 | 0.160 | 6 | 117301021 | missense variant | G/C | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 7 | 74083398 | intron variant | A/G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 22 | 37576621 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.120 | 6 | 117362705 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |