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 | 1.000 | 0.080 | 12 | 130895928 | intergenic variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 29771223 | intergenic variant | C/G | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 54369204 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 12 | 9010581 | 3 prime UTR variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 54885805 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 54502908 | 5 prime UTR variant | G/A | snv | 9.0E-02 | 5.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 54456859 | missense variant | A/G | snv | 3.2E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 54366807 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 32618381 | intergenic variant | C/- | delins | 4.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 33725787 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.160 | 6 | 32690533 | TF binding site variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 |