| 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 | 14 | 68786626 | downstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 3 | 170309619 | downstream gene variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 186686580 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 47499458 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 29765745 | regulatory region variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 160673321 | non coding transcript exon variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 75316689 | downstream gene variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 111051753 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1 | 10738432 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 31147123 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 57404428 | intron variant | A/G | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1.000 | 2 | 227295295 | inframe insertion | -/AGG | delins | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 10 | 16927924 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 10 | 16890385 | missense variant | G/A;T | snv | 1.3E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 76544835 | 3 prime UTR variant | A/C;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.882 | 0.160 | 15 | 74727108 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 39304765 | intron variant | T/A;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 69540336 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.160 | 16 | 53772541 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 6 | 32606581 | intergenic variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 4741874 | intron variant | T/C | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 10 | 76133928 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 46853449 | intron variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |