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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2000 | 2003 | |||||
|
8 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2003 | ||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 3 | 12392701 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 1 | 156136374 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
11 | 0.752 | 0.440 | 5 | 68296301 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 136676673 | missense variant | A/G | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.240 | 9 | 136677540 | missense variant | C/A;G;T | snv | 4.1E-06; 8.1E-06; 1.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 156138540 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 3 | 12417048 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 1 | 161170688 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |