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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 3 | 24293020 | intron variant | -/GTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 16 | 68766738 | intron variant | -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 18 | 660442 | intron variant | A/- | del | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 6 | 26135269 | intron variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 101442847 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 6 | 21722558 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 15 | 56253787 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
4 | 10 | 125844213 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 126914365 | intron variant | A/C | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 121464945 | intergenic variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 82013990 | upstream gene variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 46085594 | non coding transcript exon variant | A/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 38962032 | intron variant | A/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 112077745 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 134655542 | intron variant | A/C | snv | 8.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 123845801 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 117716081 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 196183605 | intergenic variant | A/C | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 93006659 | regulatory region variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 65121054 | downstream gene variant | A/C | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 13 | 75636606 | 5 prime UTR variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 17 | 44252803 | intron variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 16 | 175654 | upstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 |