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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 14 | 75513546 | intergenic variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 127400902 | non coding transcript exon variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 13 | 24243875 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 7 | 30497778 | missense variant | A/C;G | snv | 8.1E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 5 | 78910960 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 0.925 | 16 | 13806476 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 0.925 | 4 | 177374275 | intergenic variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 10 | 43111239 | missense variant | A/G | snv | 0.70 | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.120 | 5 | 151028379 | 3 prime UTR variant | G/A;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 7 | 45921946 | upstream gene variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 |