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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 12 | 63146696 | 3 prime UTR variant | C/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.040 | 9 | 136508308 | missense variant | G/A;C | snv | 1.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 7 | 136946956 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 16 | 55678038 | intron variant | T/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 6 | 154062523 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 5 | 161685687 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.925 | 0.080 | 15 | 78566058 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 |