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 | 0.160 | 12 | 59689707 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.320 | 9 | 2691186 | regulatory region variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 10 | 85018443 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 12 | 68944857 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 1 | 229105486 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 1 | 226595161 | intron variant | G/A | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 3 | 168158417 | intergenic variant | A/G | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 8 | 121117030 | intron variant | T/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 5 | 43743007 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 18 | 59195550 | intergenic variant | C/T | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 2 | 215487796 | downstream gene variant | T/A | snv | 2.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.240 | 4 | 155134181 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 3 | 168172398 | intergenic variant | T/-;TT | delins | 5.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 8 | 124979483 | downstream gene variant | ATT/- | delins | 2.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 6 | 144266047 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 15 | 53583969 | intron variant | GAGA/-;GA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.360 | 15 | 78943104 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.280 | 1 | 169601610 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 151625186 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.240 | 4 | 55955640 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 1 | 154802768 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 |