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 | 0.080 | 8 | 9538022 | intergenic variant | G/A | snv | 0.56 | 0.800 | 1.000 | 2 | 2008 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 73981235 | non coding transcript exon variant | C/T | snv | 0.11 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
6 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.120 | 6 | 32608701 | regulatory region variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.080 | 11 | 34759389 | intergenic variant | T/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 12681960 | intron variant | C/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 184680369 | intergenic variant | C/A | snv | 9.4E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 15 | 38472642 | intron variant | C/T | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 39453870 | upstream gene variant | T/C | snv | 0.16 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 75543861 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 20 | 49958778 | downstream gene variant | C/T | snv | 3.6E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 12620587 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 22 | 21562901 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 10 | 48911009 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.400 | 8 | 11486171 | upstream gene variant | A/G | snv | 0.83 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 17309480 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 8 | 11495032 | intron variant | T/C | snv | 0.26 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 11 | 35071523 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.724 | 0.280 | 12 | 12717761 | 5 prime UTR variant | T/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 34855410 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 101928157 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 1590669 | intergenic variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 73975451 | intron variant | T/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 108801970 | intergenic variant | G/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 |