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 | 0.925 | 0.120 | 4 | 10073861 | upstream gene variant | -/AT | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.120 | 6 | 26101212 | upstream gene variant | -/C | delins | 9.7E-03 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 6 | 26101212 | upstream gene variant | -/C | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 10136132 | intergenic variant | -/C;CC | ins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
5 | 1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 10 | 58523248 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 15 | 39729375 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.120 | 6 | 26101212 | upstream gene variant | A/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 6 | 25849551 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 10294674 | non coding transcript exon variant | A/C | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 22 | 43947746 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 4 | 9980420 | intron variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 10 | 58533560 | intron variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 4 | 9984086 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 4 | 87951768 | regulatory region variant | A/C | snv | 5.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 4 | 88061309 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 45233960 | intron variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.925 | 0.120 | 6 | 25612455 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 4 | 10048051 | intron variant | A/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.120 | 4 | 10125354 | intergenic variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9894236 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 9 | 128008205 | intergenic variant | A/C | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 68133068 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 26875738 | intron variant | A/C | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |