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 | 0.040 | 15 | 100914748 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 0.700 | 1.000 | 3 | 2006 | 2014 | |||
|
1 | 1.000 | 0.040 | 6 | 102055321 | intron variant | C/T | snv | 0.31 | 0.29 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 6 | 102055442 | missense variant | G/A;C;T | snv | 0.40; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 6 | 102068385 | missense variant | G/A | snv | 1.8E-02 | 1.7E-02 | 0.030 | 1.000 | 3 | 2006 | 2010 | |||
|
2 | 1.000 | 0.040 | 10 | 102431844 | intron variant | T/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 10338239 | missense variant | C/T | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 7 | 103489775 | missense variant | C/G;T | snv | 6.0E-05; 3.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 3 | 10360419 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 7 | 103610714 | missense variant | G/A;C;T | snv | 1.2E-05; 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 106607970 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 106987949 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 107113002 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 107129809 | intergenic variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 108948641 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 13 | 109501681 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 |