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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
5 | 0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 7 | 155456016 | intron variant | -/GC | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 4 | 47426318 | 3 prime UTR variant | -/T | delins | 5.1E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 112156322 | intron variant | A/C | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 205829457 | intergenic variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 22 | 40349918 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 5 | 25924513 | intergenic variant | A/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 17 | 73068087 | non coding transcript exon variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 140902846 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 2 | 181509807 | splice region variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.080 | 15 | 39588621 | missense variant | A/C;G | snv | 4.0E-06; 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 108948641 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 7 | 147934809 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 |