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 | 0.120 | 7 | 117652915 | stop gained | G/A | snv | 0.720 | 1.000 | 2 | 1991 | 1993 | |||||
|
4 | 0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 | 0.710 | 1.000 | 1 | 1993 | 1993 | |||
|
1 | 1.000 | 0.120 | 7 | 117592220 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.120 | 7 | 117603610 | synonymous variant | G/A;C;T | snv | 4.8E-05; 8.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 1995 | 1995 | ||||
|
1 | 1.000 | 0.120 | 7 | 117530921 | missense variant | C/T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.120 | 7 | 117611719 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 7 | 117606701 | missense variant | A/C;G;T | snv | 3.6E-05; 4.0E-06 | 0.730 | 1.000 | 3 | 1997 | 2001 | ||||
|
1 | 1.000 | 0.120 | 7 | 117592513 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 7 | 117535273 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.120 | 7 | 117592133 | stop gained | G/C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 7 | 117531098 | missense variant | G/A;C | snv | 7.2E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 7 | 117530991 | stop gained | T/A | snv | 0.720 | 1.000 | 2 | 1997 | 2004 | |||||
|
5 | 0.851 | 0.240 | 7 | 117540273 | missense variant | T/A | snv | 1.4E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 7 | 117642450 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 0.851 | 0.160 | 7 | 117535326 | stop gained | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1994 | 2006 | ||||
|
2 | 0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 | 0.020 | 1.000 | 2 | 1992 | 2008 | ||||
|
2 | 0.925 | 0.120 | 7 | 117611794 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 0.925 | 0.160 | 7 | 117536576 | missense variant | A/G | snv | 1.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.160 | 7 | 117611649 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
2 | 0.925 | 0.160 | 7 | 117509089 | missense variant | C/T | snv | 1.5E-03 | 4.3E-03 | 0.710 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 7 | 117587770 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 7 | 117592427 | missense variant | G/A;T | snv | 1.8E-03 | 1.7E-03 | 0.710 | 1.000 | 1 | 1990 | 2010 | |||
|
2 | 0.925 | 0.120 | 7 | 117548684 | missense variant | A/G | snv | 2.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 7 | 117548753 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.020 | 1.000 | 2 | 1991 | 2011 |