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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.900 | 0.985 | 25 | 1992 | 2019 | ||||
|
9 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 0.100 | 0.875 | 16 | 1991 | 2019 | |||||
|
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 | ||||
|
6 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.880 | 0.979 | 8 | 1990 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 117664770 | missense variant | G/A | snv | 0.840 | 1.000 | 4 | 1995 | 2017 | |||||
|
3 | 0.851 | 0.160 | 7 | 117531068 | missense variant | T/A;C | snv | 1.8E-03 | 0.840 | 1.000 | 4 | 2001 | 2017 | ||||
|
7 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 0.840 | 1.000 | 4 | 1990 | 2015 | ||||
|
3 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 0.730 | 0.941 | 3 | 2001 | 2017 | ||||
|
2 | 0.882 | 0.200 | 7 | 117587800 | missense variant | G/A;T | snv | 8.8E-05 | 0.830 | 0.978 | 3 | 1990 | 2016 | ||||
|
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 | 0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 2 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 1991 | 2016 | ||||
|
2 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 0.820 | 1.000 | 2 | 1990 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 117652915 | stop gained | G/A | snv | 0.720 | 1.000 | 2 | 1991 | 1993 | |||||
|
1 | 0.925 | 0.160 | 7 | 117606695 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
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 | ||||
|
1 | 0.925 | 0.160 | 7 | 117611743 | missense variant | T/A;G | snv | 1.6E-05 | 0.820 | 1.000 | 2 | 1990 | 2015 | ||||
|
2 | 0.882 | 0.200 | 7 | 117590409 | missense variant | A/C;G | snv | 4.0E-06 | 0.820 | 1.000 | 2 | 1990 | 2015 | ||||
|
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 | |||||
|
2 | 0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 | 0.020 | 1.000 | 2 | 1992 | 2008 | ||||
|
1 | 1.000 | 0.120 | 7 | 117530991 | stop gained | T/A | snv | 0.720 | 1.000 | 2 | 1997 | 2004 |