| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 27521170 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 97384397 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 10 | 99532633 | upstream gene variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 46323369 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 59850066 | upstream gene variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 129592027 | intron variant | C/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 22343363 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85902784 | 5 prime UTR variant | GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31273862 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 82654059 | intron variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 92300881 | intron variant | G/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 88920798 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 117619797 | intron variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 4224753 | intergenic variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 85955858 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85982722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 226426699 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 144137143 | intron variant | G/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 79975053 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 13065914 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 6843366 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 19 | 12846836 | intron variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 11979005 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |