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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2010 | |||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.050 | 1.000 | 5 | 2002 | 2016 | ||||
|
5 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2001 | 2016 | |||||
|
2 | 1.000 | 0.200 | X | 154030643 | frameshift variant | TCGGGCTC/- | delins | 5.8E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.200 | X | 154030650 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.200 | X | 154030614 | missense variant | G/A | snv | 6.8E-05 | 3.9E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |