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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.160 | 13 | 108209297 | missense variant | T/C | snv | 1.5E-03 | 5.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.882 | 0.080 | 1 | 209615169 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.120 | 13 | 29985289 | intergenic variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.790 | 0.120 | 6 | 36685820 | 3 prime UTR variant | C/T | snv | 0.15 | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.080 | 1 | 241847325 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
14 | 0.716 | 0.200 | 2 | 47373967 | missense variant | T/C | snv | 0.51 | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.200 | 12 | 10379727 | missense variant | T/C | snv | 0.81 | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 |