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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 4 | 83453327 | missense variant | C/T | snv | 0.56 | 0.60 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.925 | 0.160 | 4 | 99353129 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.807 | 0.160 | 12 | 112083644 | intron variant | G/A | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 4 | 99420704 | synonymous variant | C/T | snv | 0.12 | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 1.000 | 0.040 | 7 | 55163737 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |