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 | 0.925 | 0.040 | 5 | 65459777 | intron variant | A/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 17 | 45901622 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 45699947 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 37662673 | intron variant | A/G | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 2 | 214574984 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 11 | 67449378 | upstream gene variant | A/G | snv | 4.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 17 | 46782044 | intron variant | A/G | snv | 0.84 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 11 | 113364697 | splice region variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 109557010 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 206117948 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 6 | 29597596 | intron variant | A/G | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 11 | 47893747 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 47214747 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 15 | 77809567 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 158893901 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 3 | 117240427 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 17 | 45383525 | regulatory region variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 2 | 183858773 | intergenic variant | A/G | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 11 | 47440589 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 11 | 47654618 | downstream gene variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.925 | 0.080 | 17 | 46111701 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 81108281 | non coding transcript exon variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 |