Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 3 | 128597592 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||||
|
1 | 3 | 128599154 | intergenic variant | G/A | snv | 0.89 | 0.700 | 1.000 | 3 | 2016 | 2018 | ||||||
|
2 | 11 | 90142269 | intron variant | G/A | snv | 9.7E-02 | 0.700 | 1.000 | 2 | 2011 | 2018 | ||||||
|
1 | 3 | 3055243 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 2 | 144567410 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 5 | 132341949 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 8 | 7042814 | upstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 8 | 129613918 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 14 | 68713254 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 8299499 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 18 | 50621506 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 7 | 20502242 | intergenic variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 5075628 | intron variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 112967228 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 33269055 | regulatory region variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 19 | 39711776 | downstream gene variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
11 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 |