| 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 | 1 | 230169168 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 1 | 161538827 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 203184966 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 196759905 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 52597887 | upstream gene variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 207105106 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 67269677 | upstream gene variant | T/G | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 54631395 | intron variant | A/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 156913701 | missense variant | G/A | snv | 0.22 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 63631761 | missense variant | C/T | snv | 0.24 | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 160483182 | downstream gene variant | TT/-;T;TTT;TTTTTTTT | delins | 0.80 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 196662874 | intron variant | -/A;AA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 160597708 | intergenic variant | T/C | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 103588835 | intergenic variant | C/T | snv | 7.9E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 111235703 | missense variant | C/T | snv | 0.10 | 9.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 207245063 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.925 | 0.040 | 1 | 67242007 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 157589332 | missense variant | C/T | snv | 0.11 | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 11881879 | downstream gene variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 157591630 | intron variant | T/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 109703431 | intron variant | G/A;T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 62670175 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 154314090 | downstream gene variant | C/T | snv | 3.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 65662103 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |