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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 4 | 101818823 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 102154822 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 2 | 102358876 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 4 | 102657480 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 19 | 10317045 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.120 | 6 | 106026874 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 6 | 106082455 | intron variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.120 | 12 | 106804833 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 5 | 10689450 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 10715315 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.120 | 7 | 107809588 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 7 | 107839681 | regulatory region variant | A/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 11 | 110085620 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.120 | 11 | 110091706 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 16 | 11067551 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 16 | 11075826 | intron variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 111175424 | intron variant | G/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 111231795 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 3 | 2013 | 2017 |