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 | 9 | 131127544 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 112446327 | synonymous variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.040 | 1.000 | 4 | 2013 | 2018 | |||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |