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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.080 | 7 | 151078923 | missense variant | C/T | snv | 4.6E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
5 | 0.851 | 0.160 | 7 | 55163734 | missense variant | G/A | snv | 8.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
34 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.790 | 0.200 | 8 | 142670446 | non coding transcript exon variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.030 | 1.000 | 3 | 2010 | 2011 | |||
|
7 | 0.790 | 0.080 | 9 | 72930966 | synonymous variant | G/A | snv | 0.48 | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
11 | 0.742 | 0.160 | 10 | 102837723 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 10 | 94132433 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |