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 | 0.107 | 6 | 154626274 | intergenic variant | A/G | snp | 0.14 | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.107 | 6 | 154633286 | intergenic variant | C/G,T | snp | 0.36 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.107 | 4 | 155712034 | intron variant | T/A,C | snp | 0.79 | 0.700 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.107 | 7 | 152565713 | intergenic variant | T/C | snp | 0.25 | 0.700 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.107 | 10 | 80253378 | non coding transcript exon variant | C/T | snp | 0.48 | 0.52 | 0.700 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.107 | 8 | 123077286 | intron variant | C/A,G | snp | 0.28; 4.8E-06 | 0.29 | 0.700 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.107 | 22 | 36261386 | intron variant | G/C | snp | 0.52 | 0.700 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.107 | 1 | 64863417 | intron variant | C/T | snp | 0.36 | 0.700 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.107 | 22 | 36312438 | intron variant | G/A,T | snp | 0.82 | 0.700 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.107 | 6 | 148383818 | intron variant | G/A | snp | 0.34 | 0.700 | 1 | 2011 | 2011 | |||||
|
138 | 0.475 | 0.786 | 7 | 150999023 | missense variant | T/A,G | snp | 0.75 | 0.76 | 0.090 | 1.000 | 9 | 2005 | 2014 | |||
|
169 | 0.457 | 0.714 | 1 | 11794407 | missense variant | T/G | snp | 0.060 | 1.000 | 6 | 2000 | 2012 | |||||
|
77 | 0.543 | 0.679 | 3 | 12351626 | missense variant | C/G | snp | 0.11 | 1.0E-01 | 0.050 | 0.800 | 5 | 2007 | 2012 | |||
|
75 | 0.545 | 0.679 | 3 | 12379739 | missense variant | C/G | snp | 0.050 | 0.800 | 5 | 2007 | 2012 | |||||
|
6 | 0.878 | 0.179 | 16 | 56899607 | missense variant | G/A | snp | 0.11 | 8.2E-02 | 0.040 | 1.000 | 4 | 2004 | 2015 | |||
|
23 | 0.679 | 0.393 | 3 | 186853103 | synonymous variant | T/C,G | snp | 8.0E-06; 0.13 | 9.0E-02 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
53 | 0.570 | 0.679 | 19 | 10285007 | missense variant | A/G | snp | 0.44 | 0.36 | 0.030 | 1.000 | 3 | 2007 | 2016 | |||
|
27 | 0.657 | 0.500 | 7 | 24285260 | missense variant | T/A,C | snp | 4.0E-06; 3.0E-02 | 3.2E-02 | 0.020 | 1.000 | 2 | 2004 | 2007 | |||
|
11 | 0.756 | 0.286 | 17 | 63488529 | intron variant | T/TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TG | in-del | 0.020 | 1.000 | 2 | 2007 | 2010 | |||||
|
152 | 0.475 | 0.679 | 6 | 26090951 | missense variant | C/G | snp | 0.11 | 9.9E-02 | 0.020 | 1.000 | 2 | 2001 | 2015 | |||
|
175 | 0.463 | 0.714 | 6 | 26092913 | missense variant | G/A | snp | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2001 | 2015 | |||
|
8 | 0.801 | 0.250 | 17 | 63473168 | intergenic variant | C/G,T | snp | 0.45 | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||
|
6 | 0.878 | 0.179 | 11 | 2837316 | intron variant | C/T | snp | 8.1E-02 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
6 | 0.846 | 0.179 | 12 | 109205840 | intron variant | G/A | snp | 0.14 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
20 | 0.679 | 0.357 | 6 | 149400554 | missense variant | G/A | snp | 0.55 | 0.57 | 0.020 | 1.000 | 2 | 2007 | 2009 |