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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 1 | 145790097 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 73232845 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 16187419 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 37000965 | intergenic variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 32567626 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 172108243 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 1296140 | upstream gene variant | -/G | delins | 0.25 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 151621059 | 3 prime UTR variant | T/G | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 7 | 130982362 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 17283116 | non coding transcript exon variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 18 | 44819625 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 130027974 | intron variant | C/T | snv | 0.84 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 220692 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 17290595 | upstream gene variant | C/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 3 | 46825376 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 241870961 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 79807926 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.882 | 0.080 | 11 | 69564393 | TF binding site variant | C/A | snv | 3.9E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 82242227 | intron variant | T/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 69516650 | regulatory region variant | C/T | snv | 5.2E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 28958443 | TF binding site variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 151631197 | intergenic variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 88322666 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 127359926 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |