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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 154841877 | intron variant | C/T | snv | 0.28 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 1 | 147758953 | missense variant | C/A;T | snv | 1.2E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 12 | 5044611 | missense variant | A/G | snv | 7.2E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 74457515 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 1 | 154772376 | synonymous variant | A/G | snv | 0.77 | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 11 | 128911444 | synonymous variant | T/C | snv | 0.84 | 0.85 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 11 | 128912083 | synonymous variant | T/A;G | snv | 0.84 | 0.010 | 1.000 | 1 | 2011 | 2011 |