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 | 0.882 | 0.080 | 20 | 63659655 | intron variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 208239914 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 237833787 | 3 prime UTR variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 237833954 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.040 | 14 | 32833676 | 3 prime UTR variant | G/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 14 | 32830276 | 3 prime UTR variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 11 | 96266936 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 5 | 160472115 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2020 | 2020 |