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 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 15 | 38555562 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 11 | 64350711 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 17 | 42329431 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.882 | 3 | 106229671 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 5 | 103342219 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 16 | 11364614 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 19 | 49693735 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 12 | 103493699 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 12 | 94158023 | intron variant | A/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 4 | 10717222 | intergenic variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 15 | 67171953 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 4 | 26088753 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 4 | 40290296 | regulatory region variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 7 | 100698285 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.040 | 6 | 135581461 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 12 | 55975722 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 9 | 124236874 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 |