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 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 1.000 | 0.973 | 75 | 2007 | 2019 | ||||
|
5 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 0.820 | 1.000 | 10 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 117157796 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 | 0.720 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 117172545 | missense variant | G/A;C;T | snv | 1.5E-02; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 8 | 117173699 | 3 prime UTR variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 117153084 | stop gained | C/T | snv | 2.4E-04 | 9.8E-05 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
1 | 1.000 | 0.080 | 8 | 117142742 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 8 | 116961613 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 117163508 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 117158059 | intron variant | TCT/- | delins | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 117012076 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |