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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.878 | 0.107 | 6 | 484453 | intergenic variant | C/G | snp | 2.1E-02 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
4 | 0.846 | 0.107 | 8 | 128064327 | intron variant | C/T | snp | 0.25 | 0.700 | 1 | 2015 | 2015 | |||||
|
3 | 0.878 | 0.107 | 6 | 31355013 | non coding transcript exon variant | T/A | snp | 0.11 | 0.700 | 1 | 2015 | 2015 | |||||
|
10 | 0.744 | 0.107 | 3 | 122098766 | intron variant | G/A | snp | 0.26 | 0.700 | 1 | 2015 | 2015 | |||||
|
3 | 0.878 | 0.107 | 11 | 45224227 | missense variant | G/A,T | snp | 1.5E-04; 8.2E-02 | 6.9E-02 | 0.700 | 1 | 2015 | 2015 | ||||
|
3 | 0.878 | 0.107 | 8 | 128257220 | intergenic variant | A/G | snp | 0.43 | 0.700 | 1 | 2015 | 2015 | |||||
|
3 | 0.878 | 0.107 | 14 | 103018488 | intron variant | T/C | snp | 0.22 | 0.700 | 1 | 2011 | 2011 | |||||
|
3 | 0.878 | 0.107 | 5 | 122582513 | intergenic variant | G/T | snp | 0.71 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.107 | 6 | 113750518 | intergenic variant | A/C | snp | 0.31 | 0.700 | 1 | 2016 | 2016 | |||||
|
3 | 0.878 | 0.107 | 5 | 141655607 | intron variant | G/C | snp | 7.1E-02 | 7.7E-02 | 0.700 | 1 | 2015 | 2015 | ||||
|
3 | 0.878 | 0.107 | 2 | 24471603 | intergenic variant | C/T | snp | 8.9E-02 | 0.700 | 1 | 2015 | 2015 | |||||
|
3 | 0.878 | 0.107 | 11 | 45183037 | missense variant | G/A | snp | 8.0E-06 | 0.700 | 0 | |||||||
|
108 | 0.520 | 0.714 | 7 | 87509329 | synonymous variant | A/G,T | snp | 0.50 | 0.56 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
54 | 0.602 | 0.500 | 7 | 87531302 | missense variant | A/C,T | snp | 0.54; 3.8E-02 | 0.64; 2.5E-02 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
34 | 0.630 | 0.286 | 3 | 38141150 | stop lost | T/C | snp | 5.2E-05 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
41 | 0.602 | 0.643 | 1 | 206773289 | intergenic variant | A/G | snp | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
13 | 0.724 | 0.250 | 1 | 206776020 | intergenic variant | A/T | snp | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
7 | 0.846 | 0.214 | 16 | 27344882 | missense variant | A/C,G,T | snp | 0.45 | 0.45 | 0.020 | 1.000 | 2 | 2009 | 2016 | |||
|
8 | 0.821 | 0.286 | 4 | 88139962 | missense variant | C/T | snp | 0.11 | 7.8E-02 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
29 | 0.642 | 0.464 | 4 | 88131171 | missense variant | G/C,T | snp | 4.0E-06; 0.12 | 9.4E-02 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
18 | 0.692 | 0.357 | 6 | 31573007 | stop gained | C/A | snp | 0.35 | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 1.000 | 0.107 | 12 | 21229685 | intron variant | T/C | snp | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.642 | 0.536 | 7 | 87550285 | synonymous variant | A/G | snp | 0.54 | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
267 | 0.407 | 0.786 | 7 | 140753336 | missense variant | snp | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
36 | 0.618 | 0.464 | 1 | 114713908 | missense variant | T/A,C,G | snp | 0.010 | 1.000 | 1 | 1997 | 1997 |