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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 2 | 160028907 | missense variant | G/C | snv | 0.39 | 0.35 | 0.050 | 1.000 | 5 | 2010 | 2020 | |||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 0.020 | 1.000 | 2 | 2013 | 2020 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 2 | 160058595 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 159976677 | splice region variant | A/G;T | snv | 0.82 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 160057088 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 32637457 | 5 prime UTR variant | G/A | snv | 9.4E-02 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 2 | 160062509 | 5 prime UTR variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 68180794 | 3 prime UTR variant | A/G;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 6 | 32692101 | TF binding site variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 |