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 | 0.040 | 7 | 155461298 | intron variant | G/A | snv | 0.72 | 0.070 | 1.000 | 7 | 2004 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 155461450 | intron variant | T/C | snv | 0.73 | 0.060 | 1.000 | 6 | 2004 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 27095695 | missense variant | C/A;G;T | snv | 0.76 | 0.040 | 0.750 | 4 | 2002 | 2009 | ||||
|
4 | 0.882 | 0.040 | 2 | 171855970 | intron variant | T/C | snv | 0.81 | 0.77 | 0.040 | 1.000 | 4 | 2005 | 2010 | |||
|
3 | 0.882 | 0.040 | 2 | 171787719 | intron variant | T/C | snv | 0.81 | 0.040 | 1.000 | 4 | 2005 | 2010 | ||||
|
6 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 0.040 | 0.750 | 4 | 2011 | 2017 | ||||
|
4 | 0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 | 0.030 | 1.000 | 3 | 2009 | 2010 | ||||
|
3 | 0.925 | 0.040 | 20 | 14766825 | intron variant | T/C | snv | 0.50 | 0.820 | 0.667 | 3 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 112156322 | intron variant | A/C | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.040 | X | 5893158 | missense variant | G/A | snv | 1.1E-05 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 184902089 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 88579603 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 205745778 | synonymous variant | T/A;G | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 25902233 | intergenic variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25894289 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 205829457 | intergenic variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 30923631 | intron variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 120765281 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 114721064 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 147183313 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 9623510 | non coding transcript exon variant | T/C | snv | 5.4E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 19 | 50855373 | 3 prime UTR variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 40349918 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 9 | 126633758 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2011 | 2011 |