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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 6 | 32641349 | missense variant | T/A;C | snv | 0.49 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 32641328 | missense variant | G/A | snv | 0.49 | 0.26 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 6 | 32660146 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 6 | 32584354 | missense variant | C/A;G;T | snv | 8.9E-03; 0.23; 1.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 32661360 | missense variant | T/C;G | snv | 0.20 | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 6 | 32584360 | missense variant | G/A;C;T | snv | 2.6E-02; 5.7E-04; 0.18; 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.280 | 5 | 143320934 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |