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 | 0.040 | 2 | 61378479 | intron variant | T/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 67196939 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 10 | 62594503 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 12 | 312228 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 12 | 111424771 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 4 | 79966815 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.160 | 16 | 85981710 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 6 | 167098098 | intron variant | T/G | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 9 | 136390000 | intron variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 11 | 128476898 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 113943285 | intron variant | T/C | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 61301164 | intron variant | -/A | delins | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 |