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 | 9 | 21805207 | intron variant | -/AC | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.900 | 10 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 175093177 | frameshift variant | -/G | ins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.040 | 15 | 66490577 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 32854492 | intron variant | A/C | snv | 0.43 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 55155922 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 7675172 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 11 | 89272085 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 111142384 | missense variant | A/C | snv | 1.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 154438943 | intron variant | A/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 11 | 69552350 | intergenic variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.700 | 1.000 | 9 | 1995 | 2011 | |||||
|
2 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 13 | 32315655 | 5 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.200 | 15 | 66435115 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 16 | 89984472 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.979 | 477 | 2002 | 2020 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |