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.
dbSNP: rs2288156
rs2288156
1 1.000 0.036 17 8741536 missense variant C/A,T snp 4.0E-06; 8.8E-02 5.5E-02 0.700 1 2017 2017
dbSNP: rs4791746
rs4791746
1 1.000 0.036 17 8723039 intergenic variant T/A,C snp 0.73 0.700 1 2017 2017
dbSNP: rs1799971
rs1799971
57 0.611 0.500 6 154039662 missense variant A/G snp 0.19 0.12 0.030 1.000 3 2012 2016
dbSNP: rs6311
rs6311
13 0.744 0.214 13 46897343 intergenic variant C/T snp 0.40 0.020 1.000 2 2009 2014
dbSNP: rs1022563
rs1022563
3 0.923 0.071 20 1973693 intron variant C/G,T snp 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1049353
rs1049353
26 0.657 0.464 6 88143916 synonymous variant C/T snp 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs1079597
rs1079597
1 1.000 0.036 11 113425564 intron variant C/T snp 0.19 0.010 1.000 1 2014 2014
dbSNP: rs11503014
rs11503014
2 1.000 0.036 4 46388848 5 prime UTR variant C/G snp 3.8E-04; 0.27 0.010 1.000 1 2010 2010
dbSNP: rs11606194
rs11606194
1 1.000 0.036 11 113910259 intron variant T/C snp 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1176744
rs1176744
16 0.715 0.143 11 113932306 missense variant A/C snp 0.33 0.34 0.010 1.000 1 2012 2012
dbSNP: rs130058
rs130058
2 0.923 0.071 6 77463564 5 prime UTR variant T/A,G snp 0.23; 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs1344706
rs1344706
13 0.769 0.071 2 184913701 intron variant A/C,T snp 0.31 0.010 1.000 1 2016 2016
dbSNP: rs1389752
rs1389752
2 0.923 0.071 9 13235288 intron variant A/G,T snp 0.83 0.010 1.000 1 2016 2016
dbSNP: rs1534891
rs1534891
3 0.878 0.143 22 38299094 intron variant T/C snp 0.90 0.010 1.000 1 2015 2015
dbSNP: rs1650420
rs1650420
2 1.000 0.036 16 10174473 intron variant T/C snp 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1714984
rs1714984
1 1.000 0.036 17 12714384 intron variant A/G,T snp 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1799913
rs1799913
1 1.000 0.036 11 18025708 splice region variant G/T snp 0.39 0.34 0.010 1.000 1 2008 2008
dbSNP: rs1800497
rs1800497
36 0.662 0.250 11 113400106 missense variant G/A snp 0.26 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1816071
rs1816071
2 0.923 0.071 5 161332949 intron variant T/C snp 0.37 0.010 1.000 1 2016 2016
dbSNP: rs1867898
rs1867898
1 1.000 0.036 2 133762000 intergenic variant G/A snp 0.23 0.010 1.000 1 2008 2008
dbSNP: rs187269
rs187269
6 0.821 0.143 5 161329618 3 prime UTR variant A/G snp 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1986513
rs1986513
1 1.000 0.036 4 125146073 intergenic variant A/T snp 9.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2235749
rs2235749
5 0.821 0.179 20 1979293 3 prime UTR variant G/A snp 0.37 0.010 1.000 1 2011 2011
dbSNP: rs2236857
rs2236857
1 1.000 0.036 1 28835097 intron variant T/C snp 0.28 0.010 1.000 1 2014 2014
dbSNP: rs2236861
rs2236861
2 1.000 0.036 1 28813244 intron variant G/A snp 0.20 0.010 1.000 1 2009 2009