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 | 0.080 | 1 | 207619564 | intron variant | C/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 207569911 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 207630796 | intron variant | A/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 207627210 | intron variant | T/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 207613483 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 207621975 | missense variant | A/G | snv | 0.82 | 0.81 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 1 | 207552816 | missense variant | G/T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.880 | 1.000 | 11 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 207609571 | missense variant | A/T | snv | 0.99 | 0.99 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 207629207 | intron variant | A/C | snv | 0.87 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
8 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 0.900 | 1.000 | 17 | 2009 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 207612944 | intron variant | A/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 207577223 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |