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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 55118292 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 12 | 4134583 | intergenic variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 12 | 65399373 | intron variant | G/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 6741699 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 17 | 48474867 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 4 | 144409476 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 4 | 144521212 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 6 | 22017314 | intron variant | G/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 72954091 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 50777702 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 155164919 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 71320175 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 7 | 28160478 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 4120648 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 6 | 142367832 | missense variant | A/G | snv | 3.0E-02 | 2.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 14 | 83872087 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.925 | 0.240 | 3 | 165830741 | missense variant | T/C | snv | 1.2E-02 | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 22 | 17965347 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 41548040 | upstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 73325134 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |