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 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.840 | 1.000 | 5 | 2007 | 2015 | ||||
|
7 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 0.820 | 0.667 | 3 | 2008 | 2020 | ||||
|
1 | 1.000 | 0.040 | 5 | 150890858 | intron variant | A/G | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
5 | 0.827 | 0.120 | 5 | 150849504 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.120 | 5 | 150860025 | intron variant | G/A | snv | 0.25 | 0.080 | 0.875 | 8 | 2008 | 2020 | ||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.070 | 0.857 | 7 | 2011 | 2014 | |||
|
2 | 0.925 | 0.080 | 5 | 150848404 | missense variant | C/A;T | snv | 4.9E-02 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.040 | 5 | 150848174 | missense variant | G/A;C;T | snv | 4.6E-05; 7.2E-03; 6.5E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 5 | 150845362 | upstream gene variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 150847863 | 5 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 |