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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.900 | 0.980 | 99 | 1990 | 2020 | |||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.900 | 0.985 | 66 | 1992 | 2019 | ||||
|
9 | 0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 | 0.900 | 0.966 | 59 | 1990 | 2019 | |||
|
2 | 0.925 | 0.160 | 7 | 117587829 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 | 0.810 | 1.000 | 53 | 1990 | 2015 | ||||
|
3 | 0.882 | 0.160 | 7 | 117592008 | missense variant | A/G | snv | 3.1E-05 | 0.800 | 1.000 | 51 | 1990 | 2016 | ||||
|
8 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.880 | 0.979 | 48 | 1990 | 2016 | ||||
|
4 | 0.851 | 0.160 | 7 | 117530918 | missense variant | A/C;G | snv | 8.0E-06 | 0.800 | 1.000 | 47 | 1990 | 2015 | ||||
|
3 | 0.882 | 0.200 | 7 | 117587800 | missense variant | G/A;T | snv | 8.8E-05 | 0.830 | 0.978 | 46 | 1990 | 2016 | ||||
|
4 | 0.851 | 0.160 | 7 | 117530974 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.0E-04 | 0.800 | 1.000 | 45 | 1990 | 2015 | ||||
|
4 | 0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.830 | 1.000 | 43 | 1990 | 2015 | |||
|
4 | 0.851 | 0.160 | 7 | 117535263 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 42 | 1990 | 2016 | ||||
|
1 | 1.000 | 0.120 | 7 | 117610544 | missense variant | T/G | snv | 4.0E-06 | 0.800 | 1.000 | 42 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 41 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117535281 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.820 | 1.000 | 41 | 1990 | 2015 | |||
|
6 | 0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 | 0.850 | 1.000 | 41 | 1990 | 2015 | |||
|
5 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 0.820 | 1.000 | 40 | 1990 | 2016 | ||||
|
4 | 0.851 | 0.160 | 7 | 117587833 | missense variant | G/A;C | snv | 2.4E-05 | 0.820 | 1.000 | 40 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117590353 | missense variant | A/C | snv | 4.0E-06 | 0.800 | 1.000 | 39 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117611671 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 38 | 1990 | 2015 | |||
|
2 | 0.925 | 0.160 | 7 | 117611743 | missense variant | T/A;G | snv | 1.6E-05 | 0.820 | 1.000 | 38 | 1990 | 2015 | ||||
|
4 | 0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 38 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117611637 | missense variant | C/A;T | snv | 3.2E-05 | 0.810 | 1.000 | 38 | 1990 | 2015 | ||||
|
4 | 0.851 | 0.160 | 7 | 117559546 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 37 | 1990 | 2016 | ||||
|
2 | 0.925 | 0.160 | 7 | 117509069 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 | 0.820 | 0.973 | 37 | 1990 | 2017 | |||
|
3 | 0.882 | 0.160 | 7 | 117540237 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.810 | 1.000 | 37 | 1990 | 2015 |