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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.080 | 7 | 16944656 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.080 | 11 | 69552350 | intergenic variant | A/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
5 | 0.851 | 0.080 | 9 | 106298549 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 11 | 89294875 | intron variant | T/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 12 | 12915357 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 9 | 21844773 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 15 | 32985509 | intron variant | C/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 16 | 54081917 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 22 | 38167464 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 9 | 106305280 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 12 | 12916590 | 3 prime UTR variant | A/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 14 | 90719521 | intron variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 2 | 63550724 | intron variant | T/C | snv | 4.9E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 22 | 38141105 | non coding transcript exon variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 12 | 12922268 | downstream gene variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 11 | 69152181 | intron variant | A/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 14 | 63942595 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 5 | 149816671 | intron variant | G/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 226415934 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 10 | 103909085 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 19 | 3353624 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.080 | 16 | 68762843 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.200 | 5 | 1320132 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 |