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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | X | 54465522 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.160 | X | 54456233 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2000 | 2011 | |||||
|
2 | 0.925 | 0.200 | X | 54467901 | missense variant | C/T | snv | 7.9E-06 | 9.5E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.160 | X | 54446267 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 54467796 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 54465797 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54467883 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54470224 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54495155 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54470172 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 54455497 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | X | 54470715 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 25161451 | missense variant | C/A;T | snv | 3.0E-05; 3.0E-05 | 0.020 | 1.000 | 2 | 1998 | 2006 | ||||
|
2 | 0.925 | 0.200 | 18 | 13885082 | missense variant | C/A;T | snv | 4.0E-06; 3.2E-05 | 0.020 | 1.000 | 2 | 1998 | 2006 | ||||
|
2 | 0.925 | 0.280 | 8 | 38146051 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.160 | 2 | 25161191 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.160 | 8 | 38145969 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 18 | 13884758 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 8 | 38146039 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 18 | 13885212 | missense variant | C/G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.160 | 2 | 25161311 | missense variant | C/T | snv | 4.3E-06; 3.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.160 | 18 | 13884822 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.160 | 5 | 43619076 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |