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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 14 | 52300623 | regulatory region variant | G/A | snv | 0.47 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.120 | 14 | 52302622 | intergenic variant | T/A | snv | 0.57 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.080 | 17 | 58280457 | missense variant | C/A;T | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
14 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.882 | 0.120 | 3 | 30674186 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1999 | 2007 | ||||
|
3 | 1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 0.500 | 2 | 2005 | 2007 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.020 | 1.000 | 2 | 2006 | 2007 | |||
|
4 | 1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.020 | 1.000 | 2 | 2000 | 2007 | ||||
|
2 | 20 | 23046984 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 15 | 58563545 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |