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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.800 | 0.929 | 14 | 2010 | 2019 | ||||
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.860 | 1.000 | 8 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 168159404 | intron variant | C/T | snv | 0.16 | 0.060 | 0.833 | 6 | 2012 | 2019 | ||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.050 | 0.800 | 5 | 2012 | 2018 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.050 | 0.800 | 5 | 2011 | 2019 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.040 | 1.000 | 4 | 2011 | 2012 | ||||
|
12 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.040 | 0.500 | 4 | 2010 | 2013 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.030 | 0.667 | 3 | 2016 | 2018 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.030 | 0.667 | 3 | 2011 | 2017 | ||||
|
12 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
1 | 2 | 168179226 | intron variant | A/G | snv | 0.27 | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||||
|
2 | 2 | 168184876 | intron variant | T/G | snv | 0.37 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.710 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 12 | 89696964 | intron variant | C/T | snv | 0.15 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||||
|
9 | 0.790 | 0.200 | 10 | 102959339 | intron variant | G/A | snv | 9.0E-02 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.810 | 1.000 | 2 | 2010 | 2016 | ||||
|
4 | 12 | 89595822 | intron variant | G/A | snv | 0.60 | 0.710 | 1.000 | 2 | 2013 | 2018 | ||||||
|
6 | 0.851 | 0.160 | 19 | 15886754 | intron variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2019 |