| 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 | 46262655 | intron variant | -/AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 46217598 | non coding transcript exon variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 46243506 | intron variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
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 | 46261119 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
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 | 46237866 | intron variant | A/G;T | 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 | 46231084 | intron variant | A/G;T | snv |
|
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 | 46262655 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
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 | 46265306 | 3 prime UTR variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 46265306 | 3 prime UTR variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46222203 | intron variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 46255830 | intron variant | C/T | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |