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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 0.720 | 1.000 | 4 | 2009 | 2013 | ||||
|
9 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.020 | 0.500 | 2 | 2008 | 2011 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 16911668 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 16877790 | intergenic variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 16911759 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 2 | 138787007 | regulatory region variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.160 | 19 | 17290595 | upstream gene variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 3 | 172501054 | downstream gene variant | A/T | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 12 | 27930263 | intergenic variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 1 | 236786561 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.807 | 0.240 | 7 | 87550493 | missense variant | C/A;T | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 7 | 87550213 | synonymous variant | T/C | snv | 2.2E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 1 | 110018293 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2008 | ||||
|
14 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 0.020 | 1.000 | 2 | 2007 | 2008 | |||||
|
14 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 0.710 | 1.000 | 2 | 2010 | 2012 | |||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 2 | 1997 | 1998 | |||
|
12 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 5 | 112828864 | synonymous variant | G/A | snv | 0.65 | 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 |