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 | 11 | 32350208 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 70980861 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 69220528 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 8133597 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 65521481 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 11847699 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 114574293 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 70487201 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 23469676 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 65371860 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 79143396 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 62642697 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 23916650 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 147022468 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 10 | 27908597 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 15 | 67198936 | downstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 186855293 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 55636149 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 17 | 45608332 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 19428536 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 4 | 120683279 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 84268315 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 40194850 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |