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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
213 | 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 | |||||
|
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 | |||||
|
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 | ||||
|
1 | 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 | ||||
|
484 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.979 | 454 | 2002 | 2020 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
98 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv | 0.750 | 1.000 | 5 | 1989 | 2018 | |||||
|
1 | 0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 | 0.020 | 1.000 | 2 | 2003 | 2010 | ||||
|
7 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.720 | 1.000 | 2 | 1989 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 3038296 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
61 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.050 | 1.000 | 5 | 2009 | 2016 | |||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2015 | |||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 |