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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2007 | 2011 | ||||
|
5 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.040 | 1.000 | 4 | 1999 | 2018 | |||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.040 | 1.000 | 4 | 1996 | 2019 | |||||
|
3 | 0.882 | 0.120 | 19 | 7125437 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 13 | 111244248 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.240 | 19 | 7163143 | synonymous variant | G/A | snv | 9.8E-02 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 13 | 75359852 | stop gained | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 20 | 33624825 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |