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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.080 | 1 | 161307361 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||||
|
5 | 0.882 | 0.120 | 1 | 161307376 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.160 | 8 | 133258374 | stop gained | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 5 | 149010272 | stop gained | G/A | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1 | 20500800 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 1 | 160237145 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.080 | 1 | 161306886 | missense variant | G/A;C;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.080 | 14 | 101986017 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.080 | 3 | 100748182 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |