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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 156329859 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 97027769 | frameshift variant | -/G | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 103600058 | intergenic variant | -/TGCAATCT | delins | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 141122905 | frameshift variant | A/-;AA | delins | 1.7E-04 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 2 | 57867738 | intergenic variant | A/C | snv | 0.70 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 8 | 27037027 | intergenic variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 11 | 17387916 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.040 | 6 | 34077141 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2007 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 2 | 219637645 | missense variant | A/C;T | snv | 0.75; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 1999 | 2018 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.030 | 0.667 | 3 | 2009 | 2011 | |||
|
2 | 0.925 | 0.040 | 3 | 12148468 | intron variant | A/G | snv | 0.15 | 0.030 | 0.667 | 3 | 2010 | 2015 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2011 | 2018 |