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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 7 | 117611638 | missense variant | G/A;T | snv | 3.2E-05 | 0.810 | 1.000 | 35 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117592049 | missense variant | G/A;C | snv | 4.1E-06 | 0.810 | 1.000 | 35 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117611733 | missense variant | T/C | snv | 0.810 | 1.000 | 35 | 1990 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 117642568 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 35 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117480132 | missense variant | C/A;T | snv | 0.810 | 1.000 | 34 | 1990 | 2015 | |||||
|
2 | 0.925 | 0.160 | 7 | 117590355 | missense variant | C/A | snv | 1.2E-05 | 2.1E-05 | 0.810 | 1.000 | 27 | 1990 | 2016 | |||
|
5 | 0.827 | 0.200 | 7 | 117642451 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.810 | 1.000 | 26 | 1991 | 2015 | ||||
|
4 | 0.851 | 0.160 | 7 | 117559509 | missense variant | G/A;T | snv | 0.810 | 1.000 | 18 | 1992 | 2015 | |||||
|
3 | 0.882 | 0.160 | 7 | 117592008 | missense variant | A/G | snv | 3.1E-05 | 0.800 | 1.000 | 51 | 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 | ||||
|
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 | 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 | ||||
|
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 | |||
|
4 | 0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 | 0.800 | 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 | ||||
|
4 | 0.851 | 0.160 | 7 | 117540243 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 37 | 1990 | 2015 | |||
|
4 | 0.851 | 0.160 | 7 | 117559629 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 | 0.800 | 1.000 | 37 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117611635 | missense variant | T/C;G | snv | 0.800 | 1.000 | 36 | 1990 | 2015 | |||||
|
3 | 0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 0.800 | 1.000 | 35 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117590360 | missense variant | T/A;C;G | snv | 8.0E-06 | 0.800 | 1.000 | 35 | 1990 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117587827 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 35 | 1990 | 2015 | |||
|
1 | 1.000 | 0.120 | 7 | 117509140 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 34 | 1990 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 117603612 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 34 | 1990 | 2015 |