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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 25442718 | intron variant | -/A | delins | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 138996690 | regulatory region variant | -/C;CC | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 73733661 | upstream gene variant | -/CA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 17708820 | intron variant | -/GT | delins | 7.3E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 126369248 | intron variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 19 | 11143211 | intron variant | A/- | delins | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 92671973 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 16108932 | downstream gene variant | A/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
4 | 21 | 34484464 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 5 | 149800331 | intron variant | A/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 1.000 | 0.080 | 11 | 61832870 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 3 | 12428740 | intron variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 148726941 | intron variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 27867515 | synonymous variant | A/C | snv | 1.9E-04 | 1.7E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 201946530 | 5 prime UTR variant | A/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 20998163 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 234715469 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 234717521 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.040 | 2 | 21047682 | upstream gene variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 21034825 | missense variant | A/C | snv | 9.9E-05 | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 9 | 114415286 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 104833321 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 |