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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 18 | 721563 | downstream gene variant | A/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.120 | 12 | 111270654 | non coding transcript exon variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 2 | 182449087 | intron variant | A/C | snv | 8.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 0.040 | 4 | 102225731 | intergenic variant | A/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 12 | 89556543 | upstream gene variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 8 | 142914947 | intron variant | A/C;G | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
4 | 2 | 26688641 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
13 | 0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 6 | 126845743 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2018 | |||
|
2 | 10 | 103947673 | intergenic variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 2 | 239286459 | intron variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 10 | 102794772 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
6 | 12 | 115114632 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2018 |