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 | 0.882 | 0.080 | 9 | 37784894 | stop gained | G/A;C | snv | 8.6E-06; 3.1E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 3 | 9944503 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 4 | 109994859 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 5 | 173232997 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 18 | 79411375 | missense variant | C/T | snv | 3.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.080 | 12 | 114399553 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943972 | synonymous variant | C/T | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 18 | 79410903 | missense variant | G/A;T | snv | 7.4E-04; 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943989 | missense variant | T/C;G | snv | 2.6E-02; 6.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 22 | 19764273 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 3 | 9943440 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 3 | 9943773 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 |