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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
8 | 0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 | 0.040 | 1.000 | 4 | 2000 | 2004 | ||||
|
3 | 0.882 | 0.200 | X | 67546162 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1997 | 2007 | |||||
|
8 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
5 | 0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv | 0.030 | 1.000 | 3 | 2002 | 2010 | |||||
|
2 | 0.925 | 0.080 | X | 67643314 | missense variant | A/T | snv | 1.3E-04 | 5.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.050 | 0.600 | 5 | 2001 | 2011 | ||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.050 | 0.600 | 5 | 2001 | 2011 | ||||
|
2 | 0.925 | 0.080 | X | 67545298 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.100 | 1.000 | 14 | 2002 | 2015 | |||||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
9 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.160 | X | 67655914 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |