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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 65564881 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.030 | 1.000 | 3 | 2008 | 2014 | |||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.200 | X | 101403828 | missense variant | G/A | snv | 2.2E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 5 | 110672513 | intron variant | C/T | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 15 | 84657523 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.200 | 15 | 98704789 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 38544428 | intron variant | G/C | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 131889981 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 38524814 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 38557523 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 131863968 | intron variant | A/C | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 11 | 113120896 | intron variant | G/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 20 | 49394471 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 |