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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 5 | 112767287 | missense variant | T/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 5 | 112827969 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.200 | 8 | 118952785 | upstream gene variant | C/T | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.060 | 0.667 | 6 | 2001 | 2018 | |||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.080 | 0.875 | 8 | 2001 | 2016 | |||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.040 | 0.750 | 4 | 2001 | 2016 | |||||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.040 | 0.750 | 4 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 12 | 12717760 | 5 prime UTR variant | C/T | snv | 2.1E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 12 | 12717808 | 5 prime UTR variant | AGAG/- | delins | 3.8E-04 | 3.8E-04 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 | 0.700 | 0 | |||||||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
5 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 |