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 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 7 | 50405553 | downstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 7 | 50405912 | downstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 8 | 63039169 | upstream gene variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 33010635 | upstream gene variant | A/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 28034140 | inframe deletion | TCA/- | delins | 0.700 | 0 | ||||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.280 | 11 | 108284370 | frameshift variant | -/T | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
9 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.320 | 8 | 89982736 | frameshift variant | AA/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 1 | 66628488 | mature miRNA variant | G/A | snv | 0.17 | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.050 | 1.000 | 5 | 2014 | 2019 | ||||
|
4 | 0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 |