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 | 0.160 | 3 | 119501087 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
9 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 111404408 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 35852209 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 4 | 98875633 | 3 prime UTR variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 19 | 50423485 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
6 | 0.807 | 0.360 | 6 | 32689801 | TF binding site variant | T/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.080 | 2 | 190673836 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 1 | 197812068 | regulatory region variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 16 | 11093926 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.200 | 3 | 16913767 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 67324915 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 3 | 160028076 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 64362250 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.200 | 11 | 118873063 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.120 | 7 | 37334906 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.280 | 4 | 102630446 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 14 | 103096858 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 5 | 35942940 | upstream gene variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 |