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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 223712706 | missense variant | C/G | snv | 1.00 | 0.99 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 104369868 | intergenic variant | A/T | snv | 0.96 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 127522409 | intergenic variant | G/A | snv | 0.94 | 0.700 | 1.000 | 2 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 19 | 48584410 | intron variant | T/C | snv | 0.94 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
31 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.120 | 20 | 32811837 | downstream gene variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 | 0.710 | 1.000 | 7 | 2007 | 2013 | ||||
|
5 | 0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.200 | 22 | 38299094 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 6 | 36038443 | intron variant | G/A | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 8 | 127506309 | regulatory region variant | C/A | snv | 0.88 | 0.700 | 1.000 | 6 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.080 | 15 | 57983978 | intron variant | C/A;G | snv | 0.88 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 8 | 16232964 | intron variant | C/T | snv | 0.87 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 11 | 34434641 | upstream gene variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 3 | 186846014 | intron variant | C/T | snv | 0.85 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 100935633 | intron variant | T/C | snv | 0.84 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 16 | 16068162 | synonymous variant | T/C | snv | 0.79 | 0.84 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
6 | 0.827 | 0.080 | 2 | 238147187 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 9 | 128118550 | non coding transcript exon variant | G/A | snv | 0.82 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 | 0.710 | 1.000 | 2 | 2008 | 2012 |