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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 128597592 | intergenic variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 4 | 2011 | 2017 | ||||||||||
|
3 | 128599154 | intergenic variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||||
|
11 | 90142269 | intron variant | G/A | snv | 9.7E-02 |
|
0.700 | 1.000 | 2 | 2011 | 2018 | ||||||||||
|
3 | 3055243 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 144567410 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.120 | 8 | 7042814 | upstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 129613918 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 68713254 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 8299499 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159712765 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 50621506 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 20502242 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 112967228 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 199043349 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 33269055 | regulatory region variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 39711776 | downstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |