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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.730 | 1.000 | 4 | 2010 | 2020 | ||||
|
15 | 0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 | 0.720 | 1.000 | 4 | 2011 | 2016 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.827 | 0.120 | 19 | 11113699 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
9 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.040 | 19 | 11100245 | missense variant | C/G;T | snv | 2.3E-03 | 9.4E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
14 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 19 | 11110697 | missense variant | G/A;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 19 | 11113665 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 19 | 11116119 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |