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 | 0.040 | X | 32217062 | stop gained | G/A;C | snv | 0.700 | 1.000 | 11 | 1994 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 31206663 | stop gained | G/A | snv | 0.700 | 1.000 | 9 | 1998 | 2010 | |||||
|
3 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 0.700 | 1.000 | 9 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 0.700 | 1.000 | 8 | 1992 | 2015 | |||||
|
2 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 0.700 | 1.000 | 8 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.040 | X | 31627852 | stop gained | G/A;C | snv | 5.7E-06 | 0.700 | 1.000 | 8 | 2004 | 2015 | ||||
|
3 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1995 | 2015 | |||||
|
3 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 32389644 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 32365049 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 6 | 2001 | 2011 | ||||
|
2 | 0.925 | 0.160 | X | 31657989 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 31323597 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
3 | 0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2007 | 2016 | |||
|
2 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 0.700 | 1.000 | 5 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 32362826 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2006 | 2013 | |||||
|
1 | 1.000 | 0.040 | X | 32809559 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||
|
2 | 0.925 | 0.160 | X | 31479043 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 31223046 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 32438372 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2000 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 31209497 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 32816565 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 4 | 1994 | 2013 | ||||
|
1 | 1.000 | 0.040 | X | 31169542 | frameshift variant | A/- | del | 0.700 | 1.000 | 4 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.040 | X | 32614302 | splice donor variant | C/A;G | snv | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||
|
3 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 32823297 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2003 | 2011 |