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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.240 | 11 | 128622844 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.280 | 11 | 118871133 | regulatory region variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 8 | 128064205 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 18 | 63115978 | intergenic variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 18 | 45285245 | intron variant | G/T | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 32476767 | upstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 82447676 | non coding transcript exon variant | T/C | snv | 0.19 | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 |