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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
13 | 0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 | 0.040 | 0.750 | 4 | 2015 | 2019 | ||||
|
5 | 0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 | 0.720 | 1.000 | 3 | 2012 | 2019 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
10 | 0.763 | 0.240 | 9 | 21974219 | intron variant | A/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
8 | 0.807 | 0.160 | 12 | 112083644 | intron variant | G/A | snv | 0.45 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
5 | 0.827 | 0.080 | 1 | 43179740 | intron variant | G/A | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
7 | 0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 31393927 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 22 | 28734312 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.240 | 9 | 23557229 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 6 | 40354019 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 174407635 | intron variant | A/G | snv | 0.30 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 10 | 94285156 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 7 | 116547052 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.742 | 0.240 | 9 | 27969442 | intron variant | C/T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.160 | 5 | 126582456 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 |