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 | 117664770 | missense variant | G/A | snv | 0.840 | 1.000 | 4 | 1995 | 2017 | |||||
|
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 | ||||
|
3 | 0.882 | 0.120 | 7 | 117627753 | missense variant | A/G | snv | 4.0E-06 | 0.830 | 1.000 | 3 | 2001 | 2017 | ||||
|
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 | 117603782 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 1993 | 2018 | |||||
|
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 | 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 | 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 | 117611794 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 7 | 117504291 | missense variant | G/A;T | snv | 5.6E-05; 3.2E-05 | 0.710 | 1.000 | 1 | 1995 | 2015 | ||||
|
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 | |||
|
1 | 1.000 | 0.120 | 7 | 117590229 | intron variant | T/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 7 | 117534330 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
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 | ||||
|
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 | ||||
|
1 | 1.000 | 0.120 | 7 | 117548797 | missense variant | G/C;T | snv | 0.710 | 1.000 | 1 | 1990 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117548823 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | 117590387 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 117591993 | missense variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 117592049 | missense variant | G/A;C | snv | 4.1E-06 | 0.810 | 1.000 | 1 | 1990 | 2015 |