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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 0.100 | 0.875 | 16 | 1991 | 2019 | |||||
|
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 | 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 | 117535273 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
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 | 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 | 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 | 117592220 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1994 | 1994 | |||||
|
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 | 117603654 | missense variant | T/A;C | snv | 0.710 | 1.000 | 1 | 1994 | 2015 | |||||
|
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 | 117611733 | missense variant | T/C | snv | 0.810 | 1.000 | 1 | 1990 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117642450 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 0.925 | 0.160 | 7 | 117480132 | missense variant | C/A;T | snv | 0.810 | 1.000 | 1 | 1990 | 2015 | |||||
|
1 | 0.925 | 0.160 | 7 | 117531070 | stop gained | G/A;T | snv | 0.710 | 1.000 | 1 | 2008 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 117531109 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 7 | 117535381 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 7 | 117540305 | missense variant | C/A | snv | 0.710 | 1.000 | 1 | 1990 | 2018 |