| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 65438139 | intron variant | G/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 129609008 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.776 | 0.080 | 10 | 99530544 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
5 | 132329474 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTTTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 72466717 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 181459039 | non coding transcript exon variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
2 | 181459460 | intron variant | TT/-;T;TTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31253891 | intergenic variant | C/A;G | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||||
|
2 | 181463487 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||||
|
15 | 79930230 | downstream gene variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 74706839 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 85912844 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
14 | 24992783 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 129592317 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 71765768 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 24976156 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 8626746 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.240 | 20 | 50338887 | regulatory region variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 58331728 | non coding transcript exon variant | G/A;C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
20 | 40643980 | regulatory region variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 74766507 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 49619754 | non coding transcript exon variant | G/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 306884 | upstream gene variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |