| 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 | 46236831 | intron variant | TTTT/-;TT;TTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46254155 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46222812 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46235454 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46262655 | intron variant | -/AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
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 | 46190544 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46204532 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46252149 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
18 | 46228682 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46237866 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46243465 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46172027 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46193937 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46251414 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46197865 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46231084 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46262655 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
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 | 46182216 | intron variant | T/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 46265918 | 3 prime UTR variant | TT/- | del | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |