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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.851 | 0.160 | 18 | 58451261 | non coding transcript exon variant | C/A;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 8 | 39912430 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 9 | 6225535 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.160 | 11 | 18040935 | 5 prime UTR variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 9 | 128833128 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 5 | 3756587 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 7 | 18996297 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 0.851 | 0.160 | 9 | 74761731 | missense variant | T/C | snv | 0.20 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.240 | 20 | 46013092 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 8 | 39912074 | intron variant | C/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.360 | 9 | 136670698 | intron variant | A/G | snv | 0.67 | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 7 | 55202667 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 12 | 65438688 | intron variant | T/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 18042430 | upstream gene variant | A/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 |