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 | 117536669 | stop gained | A/T | snv | 0.710 | < 0.001 | 1 | 2017 | 2017 | |||||
|
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 | 117531109 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 4 | 109740999 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 1991 | 1991 | |||||
|
9 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 0.100 | 0.875 | 16 | 1991 | 2019 | |||||
|
3 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 0.730 | 0.941 | 3 | 2001 | 2017 | ||||
|
9 | 0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 | 0.900 | 0.966 | 16 | 1990 | 2019 | |||
|
1 | 0.925 | 0.160 | 7 | 117509069 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 | 0.820 | 0.973 | 2 | 1990 | 2017 | |||
|
2 | 0.882 | 0.200 | 7 | 117587800 | missense variant | G/A;T | snv | 8.8E-05 | 0.830 | 0.978 | 3 | 1990 | 2016 | ||||
|
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 | ||||
|
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 | |||
|
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 | ||||
|
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 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.100 | 1.000 | 10 | 1992 | 2015 | |||
|
3 | 0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 | 0.850 | 1.000 | 5 | 1990 | 2015 | |||
|
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 | 0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.830 | 1.000 | 3 | 1990 | 2015 | |||
|
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 | ||||
|
8 | 0.827 | 0.200 | 7 | 117614699 | missense variant | G/C | snv | 4.0E-04 | 3.2E-04 | 0.730 | 1.000 | 3 | 1990 | 2015 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 1.000 | 2 | 2012 | 2018 |