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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 1 | 58292243 | intron variant | T/C | snv | 0.95 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 5 | 114463289 | intron variant | C/T | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 175175985 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 8 | 117537137 | intron variant | T/C | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 184718015 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 19 | 40775111 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 64304697 | intron variant | C/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 10 | 20879174 | intron variant | C/G | snv | 4.6E-02 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 13 | 19181923 | upstream gene variant | T/C | snv | 8.3E-02 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 5 | 135459219 | downstream gene variant | G/A | snv | 1.0E-01 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 11 | 36122428 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 8 | 11504763 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 15327376 | non coding transcript exon variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 11514632 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 7 | 99632145 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 9 | 114011589 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 8 | 11514576 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 37677736 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 15 | 89777808 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 8 | 11481059 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 8 | 11493711 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 8 | 11498471 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 |