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 | 19 | 2252991 | missense variant | C/G | snv | 0.20 | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 19 | 2253733 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 45568049 | missense variant | G/A | snv | 2.6E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.882 | 0.160 | 19 | 38496466 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 1.000 | 4 | 2010 | 2014 | ||||
|
4 | 0.925 | 0.080 | 3 | 42688963 | missense variant | A/C;G | snv | 9.5E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 19 | 38580382 | missense variant | G/A | snv | 7.6E-05 | 1.1E-04 | 0.700 | 1.000 | 8 | 2008 | 2015 | |||
|
2 | 1.000 | 0.080 | 3 | 42686220 | stop gained | G/A;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 1218858 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.120 | 19 | 38534775 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2007 | 2013 | ||||
|
3 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 2000 | 2013 | ||||
|
1 | 3 | 42686221 | stop gained | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 2 | 178734327 | splice donor variant | C/A;T | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 10 | 86687218 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2005 | 2017 | ||||
|
5 | 0.882 | 0.080 | 3 | 100748182 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 12 | 109793560 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 229431994 | missense variant | C/A;G | snv | 0.700 | 1.000 | 6 | 2003 | 2015 | |||||
|
1 | X | 154380232 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 6 | 1975 | 1999 | |||||||
|
2 | 2 | 219420116 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2012 | ||||||
|
4 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 0.700 | 1.000 | 4 | 1996 | 2017 | |||||
|
4 | 0.882 | 0.160 | 14 | 23415476 | inframe deletion | TCT/-;TCTTCT | delins | 0.700 | 1.000 | 4 | 2003 | 2012 | |||||
|
6 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2009 | 2015 | |||||
|
3 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 0.700 | 1.000 | 4 | 2007 | 2017 | |||||
|
1 | X | 154381072 | frameshift variant | -/TGGGC | delins | 0.700 | 1.000 | 3 | 1995 | 2007 | |||||||
|
2 | 1.000 | 0.080 | 1 | 156137233 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2009 |