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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 49950222 | intron variant | G/A | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 30580789 | 3 prime UTR variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 17 | 49320708 | intron variant | T/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 11802341 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 37010016 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 149172185 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 149173016 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 10 | 62628871 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 62671446 | non coding transcript exon variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 88490472 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 88493354 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 88491756 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 68574608 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 130045757 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 139102449 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 41356940 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 22 | 41324693 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 149471864 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 22453334 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 11 | 114113387 | intron variant | C/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 11 | 114086475 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 0.040 | 22 | 21627765 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 16 | 69844631 | intron variant | C/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 |