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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 1 | 38528443 | intergenic variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 156051319 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 1 | 26602511 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.080 | 1 | 7032722 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 170046818 | synonymous variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 1 | 76660688 | intergenic variant | C/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 11022559 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 1 | 11022437 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 2 | 74378104 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 74366896 | missense variant | G/A;C | snv | 1.9E-04 | 0.700 | 1.000 | 5 | 2004 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 74361590 | missense variant | G/A | snv | 2.9E-03 | 2.8E-03 | 0.700 | 1.000 | 5 | 2004 | 2012 | |||
|
2 | 1.000 | 0.080 | 2 | 74368870 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
4 | 0.882 | 0.120 | 2 | 74363337 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
4 | 0.851 | 0.080 | 2 | 171824168 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 2 | 212050001 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 2 | 222016799 | intergenic variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 2 | 207624377 | 5 prime UTR variant | C/A | snv | 0.19 | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 2 | 193714051 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 2 | 176116615 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 3 | 143629403 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 178681763 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 3 | 51882999 | intergenic variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 3 | 104699729 | intergenic variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 3 | 187219412 | 3 prime UTR variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 |