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: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.050 0.800 5 2009 2014
dbSNP: rs1128503
rs1128503
28 0.642 0.536 7 87550285 synonymous variant A/G snp 0.54 0.61 0.020 1.000 2 2011 2014
dbSNP: rs2072671
rs2072671
CDA
7 0.801 0.179 1 20589208 missense variant A/C snp 0.28 0.23 0.020 1.000 2 2012 2012
dbSNP: rs775729712
rs775729712
2 0.923 0.036 4 182915501 missense variant G/C snp 0.020 1.000 2 2010 2011
dbSNP: rs10824095
rs10824095
ADK
2 0.923 0.036 10 74176853 5 prime UTR variant C/G,T snp 0.67 0.73 0.010 1.000 1 2016 2016
dbSNP: rs11045585
rs11045585
2 0.923 0.036 12 20892760 intron variant A/G snp 0.18 0.010 1.000 1 2008 2008
dbSNP: rs11141915
rs11141915
2 0.923 0.036 9 87620879 intron variant A/C snp 0.24 0.010 1.000 1 2012 2012
dbSNP: rs113193886
rs113193886
38 0.608 0.464 7 143267671 missense variant A/T snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11536889
rs11536889
8 0.769 0.286 9 117715853 3 prime UTR variant G/C snp 0.11 0.010 1.000 1 2011 2011
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs11706052
rs11706052
3 0.878 0.071 3 49026677 intron variant A/G snp 8.3E-02 7.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs11719165
rs11719165
2 0.923 0.036 3 194865359 intergenic variant T/C snp 0.53 0.010 1.000 1 2012 2012
dbSNP: rs12046844
rs12046844
2 0.923 0.036 1 65772696 intergenic variant G/A snp 0.19 0.010 1.000 1 2012 2012
dbSNP: rs12762549
rs12762549
2 0.923 0.036 10 99861014 intergenic variant C/G,T snp 0.46 0.010 1.000 1 2008 2008
dbSNP: rs12934241
rs12934241
2 0.923 0.036 16 55486666 non coding transcript exon variant C/G,T snp 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1453542
rs1453542
3 0.923 0.036 11 59457412 missense variant G/A,C snp 7.2E-05; 0.26 6.4E-05; 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.010 1.000 1 2010 2010
dbSNP: rs1801019
rs1801019
4 0.878 0.071 3 124737895 missense variant G/A,C snp 4.0E-06; 0.19 0.17 0.010 1.000 1 2007 2007
dbSNP: rs1885301
rs1885301
2 0.923 0.036 10 99781296 intergenic variant A/G snp 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1901440
rs1901440
2 0.923 0.036 2 133680388 intergenic variant C/A snp 0.60 0.010 1.000 1 2012 2012
dbSNP: rs1927911
rs1927911
8 0.784 0.357 9 117707776 intron variant A/G snp 0.62 0.010 1.000 1 2011 2011
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs2032592
rs2032592
5 0.846 0.143 Y 12919473 3 prime UTR variant A/G snp 0.010 1.000 1 2011 2011
dbSNP: rs2074087
rs2074087
3 0.878 0.071 16 16090375 intron variant C/G snp 0.81 0.84 0.010 1.000 1 2014 2014