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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
10 | 0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 1 | 169555300 | missense variant | T/C | snv | 6.9E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
7 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
17 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 3 | 93879173 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 11 | 46739317 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 20 | 23048100 | missense variant | C/A;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.030 | 1.000 | 3 | 1999 | 2008 | ||||
|
3 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
8 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.040 | 19 | 46623592 | missense variant | G/A;C | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 |