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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 5 | 110810746 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 11 | 62419070 | 5 prime UTR variant | G/A | snv | 0.34 | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 5 | 116639960 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 147876039 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 16 | 11065028 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 6 | 52233314 | downstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 52222236 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 6 | 52192184 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.701 | 0.560 | 6 | 52185988 | upstream gene variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 19 | 4229916 | intron variant | G/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | X | 49272561 | intron variant | G/T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.200 | 14 | 24518659 | intergenic variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 52221483 | TF binding site variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2013 | |||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.120 | 19 | 10255220 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 11 | 112155193 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.440 | 5 | 132060785 | missense variant | C/T | snv | 0.29 | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 |