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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 9951515 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 11 | 27501639 | intron variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.240 | 1 | 199996040 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 12 | 120990604 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 12 | 121016819 | upstream gene variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 9907995 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.120 | 10 | 118519432 | intergenic variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 152798206 | intergenic variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 47248996 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 37717865 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 230727252 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 21 | 42358786 | downstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 18351676 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 96970814 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 96947703 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 63564941 | intergenic variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 5 | 39394887 | intron variant | C/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 9 | 104125300 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.280 | 5 | 1344343 | splice region variant | G/A;T | snv | 0.37; 8.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 112503773 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 3 | 13029299 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 |