| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.810 | 1.000 | 3 | 2002 | 2006 | ||||
|
1 | 1.000 | 0.120 | 1 | 156137210 | missense variant | C/T | snv | 0.810 | 1.000 | 1 | 2005 | 2005 | |||||
|
9 | 0.776 | 0.200 | 1 | 156138507 | missense variant | C/T | snv | 1.5E-04 | 1.0E-04 | 0.810 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.200 | 1 | 156137203 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 | 0.710 | 1.000 | 1 | 2008 | 2008 | |||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156137209 | missense variant | G/A | snv | 4.7E-06 | 0.700 | 0 | |||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 156137671 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 1 | 40258392 | stop gained | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.160 | 1 | 40272009 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 1 | 156136342 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 1 | 40281367 | missense variant | A/G | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.160 | 1 | 156136951 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.200 | 1 | 156134908 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.320 | 1 | 156115094 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.200 | 1 | 156130679 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |