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 | 1 | 163535374 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 133762000 | intergenic variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 4 | 125146073 | intergenic variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 17 | 65230912 | downstream gene variant | A/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 8723039 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 153992036 | intergenic variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 154002774 | intergenic variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 193494720 | intron variant | G/A | snv | 0.86 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 111792761 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.080 | 12 | 99455122 | intron variant | G/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 69596980 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 11 | 27701142 | intron variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 11 | 27643996 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.160 | 11 | 27646808 | intron variant | G/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 11 | 27561582 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 11 | 27541835 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2011 | 2016 | |||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 11 | 27676827 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |