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 | 0.080 | 10 | 109975992 | intron variant | C/T | snv | 0.22 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 109997916 | intron variant | G/A;C | snv | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||
|
2 | 0.925 | 0.080 | 10 | 110086929 | intron variant | A/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 14 | 49905817 | upstream gene variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 2 | 240451099 | non coding transcript exon variant | C/G;T | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
10 | 0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 35284538 | non coding transcript exon variant | A/G;T | snv | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 119912963 | 3 prime UTR variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 35276981 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |