| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 27872263 | intergenic variant | A/C | snv | 0.15 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 65556254 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 102890921 | intron variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 67078168 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 17 | 61574921 | TF binding site variant | T/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 27842114 | intergenic variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 122122290 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 85309292 | missense variant | G/A | snv | 4.2E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 183937111 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 22 | 41157913 | intron variant | G/T | snv | 1.2E-02 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 18370370 | intron variant | A/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 150474986 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 115078463 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 129203569 | missense variant | C/T | snv | 4.1E-04 | 3.5E-04 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 15 | 67177230 | intron variant | A/G | snv | 0.54 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 45406446 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 102938828 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 45389962 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 115080028 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 21 | 38676371 | intergenic variant | G/A;T | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 9227785 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 18224045 | intron variant | A/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 66734153 | upstream gene variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 116721853 | intron variant | A/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 52783762 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 |