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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.120 | 9 | 134842570 | 3 prime UTR variant | C/T | snv | 0.44 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 6 | 121460244 | intergenic variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 11 | 102798678 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 14 | 53954334 | intron variant | G/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 9 | 134843036 | 3 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 16 | 77939459 | intron variant | A/C;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.280 | 4 | 55110466 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 5 | 44369554 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 6 | 169225779 | intron variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2014 | 2014 |