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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
3 | 0.925 | 0.040 | 3 | 8752859 | 3 prime UTR variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.040 | 3 | 8760797 | intron variant | T/C | snv | 0.71 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 8766599 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 3 | 8759154 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 8760360 | intron variant | T/A | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 3 | 8767498 | synonymous variant | G/A | snv | 0.29 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 3 | 8753021 | missense variant | G/A;C | snv | 1.6E-05; 3.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 |