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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 124720306 | intron variant | -/A | delins | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 131553246 | intron variant | -/C | delins | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 65739571 | regulatory region variant | -/CCTTTTT;CTTTTT;CTTTTTTCTTTTT | delins | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 22 | 38205423 | 5 prime UTR variant | -/CTC | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 34846312 | intron variant | -/CTTTCTTTT;CTTTT;CTTTTT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 19283081 | intron variant | -/G | ins | 5.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 80363511 | intron variant | -/G;GT;GTT;GTTT;GTTTT | ins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 54118699 | regulatory region variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 133478448 | intron variant | -/TA;TATA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 17688488 | intron variant | -/TAATAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 54344716 | intron variant | -/TGTC | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 15172097 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 23365736 | intron variant | A/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 15 | 53659238 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | X | 8942922 | intergenic variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 79675094 | upstream gene variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 177257637 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 51727173 | intergenic variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 55418058 | intergenic variant | A/C | snv | 6.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 176188698 | 5 prime UTR variant | A/C | snv | 2.5E-02 | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 11 | 5557328 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 40569767 | intron variant | A/C | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 1 | 243306367 | 3 prime UTR variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 119096070 | upstream gene variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 |