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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 117708553 | regulatory region variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
2 | 168457008 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
3 | 141904462 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
17 | 81558634 | 3 prime UTR variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
5 | 1104823 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
10 | 24569461 | intergenic variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
2 | 62296430 | TF binding site variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
2 | 8616053 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
14 | 74080615 | intron variant | T/A | snv | 0.17 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
9 | 132985025 | intron variant | G/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 60498316 | intron variant | G/C;T | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
14 | 23025068 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
16 | 31393250 | upstream gene variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
17 | 21253548 | upstream gene variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
17 | 82522640 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
2 | 58770577 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
11 | 4107890 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
8 | 143989244 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
15 | 40014133 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 24301839 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
11 | 61814184 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2019 |