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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 11320426 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 11 | 124568716 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.120 | 7 | 8678450 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 10 | 4971951 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.120 | 15 | 67807105 | 3 prime UTR variant | C/T | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 4 | 170014094 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 22 | 19963574 | missense variant | G/A;C;T | snv | 2.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.030 | 1.000 | 3 | 2015 | 2016 | |||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 10 | 101791382 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.080 | 12 | 71954918 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 7 | 31032854 | intergenic variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.080 | 12 | 121274274 | missense variant | T/A;G | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |