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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 12 | 120223776 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 17 | 64483156 | intron variant | A/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.240 | 4 | 1804404 | missense variant | T/A;C | snv | 8.0E-06; 3.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 1 | 111766501 | missense variant | C/A;T | snv | 0.12; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 5 | 64771925 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 14 | 72562470 | missense variant | G/A | snv | 9.0E-02 | 0.10 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.120 | 7 | 75985635 | synonymous variant | T/A;C | snv | 4.5E-06; 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 15 | 39580382 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 19 | 43573355 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 19 | 43554087 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 12 | 104319543 | missense variant | G/A | snv | 2.1E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 17 | 73016334 | intron variant | G/C | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 7 | 17339533 | missense variant | G/A | snv | 7.8E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 152684065 | intergenic variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | X | 12889591 | 3 prime UTR variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 19 | 29810916 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 8 | 22540949 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 67584520 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 3 | 49358109 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 8 | 42449295 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 15 | 74577097 | intron variant | T/C | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |