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 | 117590229 | intron variant | T/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.800 | 1.000 | 14 | 1991 | 2018 | ||||
|
3 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.800 | 1.000 | 12 | 1990 | 2017 | ||||
|
11 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.800 | 1.000 | 11 | 1989 | 2019 | ||||
|
1 | 0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 2 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117652915 | stop gained | G/A | snv | 0.720 | 1.000 | 2 | 1991 | 1993 | |||||
|
1 | 1.000 | 0.120 | 7 | 117611751 | stop gained | G/T | snv | 0.720 | 1.000 | 2 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 117530991 | stop gained | T/A | snv | 0.720 | 1.000 | 2 | 1997 | 2004 | |||||
|
1 | 1.000 | 0.120 | 7 | 117536669 | stop gained | A/T | snv | 0.710 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.120 | 7 | 117603609 | stop gained | C/A;T | snv | 1.1E-03 | 0.710 | 1.000 | 1 | 1993 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117535273 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 0.925 | 0.160 | 7 | 117592520 | stop gained | C/T | snv | 1.1E-05 | 7.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2014 | |||
|
1 | 1.000 | 0.120 | 7 | 117559537 | stop gained | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2004 | 2013 | ||||
|
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 | 117592220 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.120 | 7 | 117665556 | stop gained | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 0.925 | 0.160 | 7 | 117531070 | stop gained | G/A;T | snv | 0.710 | 1.000 | 1 | 2008 | 2012 | |||||
|
1 | 0.851 | 0.160 | 7 | 117535326 | stop gained | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1994 | 2006 | ||||
|
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 | 117642484 | stop gained | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.710 | 1.000 | 1 | 1993 | 2016 | ||||
|
1 | 0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 | 0.710 | 1.000 | 1 | 1992 | 2016 | ||||
|
1 | 0.851 | 0.160 | 7 | 117611707 | stop gained | G/A | snv | 2.4E-05 | 0.710 | 1.000 | 1 | 1992 | 2019 | ||||
|
1 | 0.851 | 0.160 | 7 | 117627525 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 0.710 | 1.000 | 1 | 1992 | 2013 | |||
|
12 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.900 | 0.980 | 69 | 1990 | 2020 |