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 | 3 | 38550748 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 3 | 38555720 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
11 | 0.763 | 0.120 | 3 | 38575385 | missense variant | C/T | snv | 5.4E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 38592651 | intron variant | C/A | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
16 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
2 | 0.925 | 0.080 | 3 | 38605956 | missense variant | G/A;C | snv | 4.1E-06; 5.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 38607330 | intron variant | C/T | snv | 2.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 38622428 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 3 | 38633283 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |