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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 5 | 34004602 | missense variant | C/T | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.120 | 5 | 112780878 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.080 | 8 | 142915123 | missense variant | T/C | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.240 | 20 | 58854075 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.160 | 11 | 64804546 | missense variant | T/C | snv | 0.94 | 0.90 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
6 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.240 | 2 | 48688427 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.160 | 12 | 47838310 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.080 | 11 | 128911724 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
11 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |