| 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 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
1 | 117708521 | regulatory region variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 198626376 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||||||
|
1 | 154318779 | upstream gene variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 3080038 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 37473572 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 205232197 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 220963330 | regulatory region variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 235748725 | intron variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 88708570 | intron variant | A/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 46098008 | intron variant | C/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 234599210 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 206660258 | intron variant | C/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 209760788 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 47227548 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 118125195 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 240794633 | intron variant | C/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 205278032 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 93073392 | intergenic variant | C/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 158634353 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 43304847 | splice region variant | C/G | snv | 3.4E-02 | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 65680563 | intergenic variant | C/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 117644577 | upstream gene variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 44031577 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |