| 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 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
1 | 8 | 10147444 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 25928927 | intron variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 2063163 | 3 prime UTR variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 91824400 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 9278630 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 35187566 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170885468 | intron variant | C/T | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 123323526 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 14 | 58377808 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 64970119 | downstream gene variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170254627 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 168741790 | intron variant | C/A;T | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 3193201 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 18424258 | 5 prime UTR variant | A/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 23187889 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 48030514 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 169355555 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 170366687 | downstream gene variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 169825364 | intron variant | A/G | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170123530 | intergenic variant | T/G | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |