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: rs1709393
rs1709393
1 3 101980310 intron variant C/T snp 0.54 0.700 1 2017 2017
dbSNP: rs4692589
rs4692589
1 4 170014094 intron variant A/G snp 0.43 0.700 1 2016 2016
dbSNP: rs72711240
rs72711240
1 4 134774652 intron variant C/T snp 2.4E-02 0.700 1 2017 2017
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.100 1.000 23 2005 2017
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.100 1.000 23 2005 2017
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.100 0.947 19 2006 2016
dbSNP: rs324981
rs324981
14 0.724 0.286 7 34778501 missense variant A/T snp 0.44 0.49 0.070 1.000 7 2012 2016
dbSNP: rs5751876
rs5751876
11 0.756 0.214 22 24441333 synonymous variant T/C snp 0.54 0.53 0.060 1.000 6 2009 2016
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.050 1.000 5 2010 2016
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.030 0.667 3 2008 2011
dbSNP: rs4570625
rs4570625
12 0.756 0.143 12 71938143 intergenic variant G/T snp 0.28 0.030 1.000 3 2013 2017
dbSNP: rs2180619
rs2180619
3 1.000 0.036 6 88168233 intergenic variant G/A snp 0.54 0.020 1.000 2 2010 2014
dbSNP: rs2254298
rs2254298
11 0.784 0.071 3 8760542 intron variant G/A snp 0.15 0.020 1.000 2 2011 2012
dbSNP: rs2298383
rs2298383
2 1.000 0.036 22 24429543 non coding transcript exon variant C/A,T snp 0.49 0.020 1.000 2 2009 2011
dbSNP: rs3761422
rs3761422
3 1.000 0.036 22 24430704 intron variant T/C snp 0.63 0.020 0.500 2 2010 2011
dbSNP: rs53576
rs53576
23 0.692 0.107 3 8762685 intron variant A/G,T snp 0.67 0.020 1.000 2 2015 2016
dbSNP: rs1006737
rs1006737
31 0.679 0.107 12 2236129 intron variant G/A snp 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1012176
rs1012176
1 5 11320426 intron variant G/T snp 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs1043307
rs1043307
3 1.000 0.036 12 121915890 missense variant snp 0.010 1.000 1 2016 2016
dbSNP: rs104893878
rs104893878
17 0.744 0.179 4 89835580 missense variant C/G snp 0.010 1.000 1 2014 2014
dbSNP: rs1049353
rs1049353
26 0.657 0.464 6 88143916 synonymous variant C/T snp 0.21 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1079196
rs1079196
3 1.000 0.036 3 59821052 intron variant G/A snp 0.22 0.010 1.000 1 2013 2013
dbSNP: rs110402
rs110402
9 0.821 0.107 17 45802681 intron variant G/A,C snp 0.47; 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs1110976
rs1110976
2 1.000 0.036 11 113413797 intron variant T/G snp 0.010 1.000 1 2009 2009
dbSNP: rs11111
rs11111
4 0.878 0.071 5 37814000 3 prime UTR variant T/C snp 0.21 0.010 1.000 1 2014 2014