Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 46189157 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 46189157 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 46208079 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 46252149 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
18 | 46213842 | intron variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 46213842 | intron variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 46225695 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 46225695 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 46253312 | intron variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 46213522 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 46236831 | intron variant | TTTT/-;TT;TTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46265306 | 3 prime UTR variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46265918 | 3 prime UTR variant | TT/- | del | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46265918 | 3 prime UTR variant | TT/- | del | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46265918 | 3 prime UTR variant | TT/- | del | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46228682 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46251293 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46251293 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46251293 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46262069 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 46254155 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |