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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 22 | 40631815 | intron variant | T/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 25418866 | intron variant | T/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 13 | 109501681 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 10 | 102431844 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 199960517 | intron variant | A/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.040 | 11 | 125591814 | 5 prime UTR variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 20 | 21267478 | downstream gene variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 14 | 71950609 | intron variant | C/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 113541721 | intergenic variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 3 | 62495388 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 131882504 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 21 | 23732894 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 20 | 38797937 | intergenic variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 58551465 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 26466161 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 3 | 52234850 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 20 | 63501824 | upstream gene variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 71134362 | intergenic variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 81491868 | intergenic variant | A/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 163758686 | intergenic variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 5 | 61203304 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 133691804 | non coding transcript exon variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2015 | 2015 |