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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 152599323 | intergenic variant | C/T | snv | 0.34 | 0.820 | 1.000 | 4 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 181678529 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.080 | 13 | 26207391 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 27812217 | intergenic variant | C/T | snv | 0.15 | 0.800 | 1.000 | 3 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 22133285 | intergenic variant | G/A | snv | 0.14 | 0.800 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 12248301 | intergenic variant | A/G | snv | 4.9E-02 | 0.800 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 62112183 | regulatory region variant | C/T | snv | 0.30 | 0.820 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 20679079 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 226228869 | intergenic variant | A/C | snv | 0.75 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 186947857 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 41665473 | non coding transcript exon variant | A/C;G | snv | 0.720 | 1.000 | 3 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 17386704 | 3 prime UTR variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 20 | 44318326 | intergenic variant | T/G | snv | 0.30 | 0.810 | 0.667 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 188022735 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.080 | 15 | 77485290 | 3 prime UTR variant | C/T | snv | 0.43 | 0.820 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 160314943 | intron variant | T/C | snv | 0.75 | 0.810 | 1.000 | 3 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 103067742 | intron variant | G/A;T | snv | 0.800 | 1.000 | 3 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 28156603 | intron variant | A/G | snv | 0.41 | 0.800 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 23162533 | regulatory region variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 186620636 | synonymous variant | A/C | snv | 0.76 | 0.77 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
1 | 1.000 | 0.080 | 10 | 12272998 | intergenic variant | A/G | snv | 0.37 | 0.810 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 167312757 | intron variant | A/G | snv | 1.0E-02 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 20717173 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 131597867 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 12213658 | intron variant | G/T | snv | 0.27 | 0.800 | 1.000 | 2 | 2011 | 2019 |