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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 1 | 157135581 | missense variant | C/G | snv | 4.8E-05 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.240 | 1 | 30874473 | missense variant | G/A;C | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.925 | 0.080 | 1 | 161047766 | synonymous variant | C/T | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.040 | 1 | 159711574 | downstream gene variant | G/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 89517625 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 1 | 161555218 | intron variant | T/C | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 65428659 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 1 | 165419892 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 1 | 230171436 | intron variant | T/A;C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 1 | 32867503 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 156136311 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 230710676 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 1 | 209714373 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |