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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 4 | 54635119 | intergenic variant | -/A;ATTTTTTTTTA | ins | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218297998 | intron variant | -/C | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 48640988 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 74700954 | intron variant | A/- | del | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 17 | 59748211 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 79287818 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 27859995 | intergenic variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 71752058 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 3 | 141208279 | intergenic variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 13 | 49547375 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 5 | 72432861 | intergenic variant | A/G | snv | 0.85 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 7 | 44969742 | missense variant | A/G | snv | 0.87 | 0.88 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 1.000 | 0.080 | 17 | 58279141 | missense variant | A/G | snv | 1.0E-02 | 9.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 19 | 45241584 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 101160470 | intron variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 7 | 47408324 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 |