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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 12 | 51967869 | intron variant | C/G | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 2 | 43237679 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 3 | 128603031 | intergenic variant | G/- | delins | 0.89 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 14 | 77396337 | intron variant | C/- | delins | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 22359286 | intron variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 48640988 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 31304776 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 14 | 77495266 | intron variant | G/A;C | snv | 0.70 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 59748211 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 711285 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 5 | 69294573 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 7 | 50218107 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 3 | 47220756 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 7045375 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 15 | 41939155 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 10 | 24922362 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 97218288 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 40021586 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 |