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: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.870 1.000 8 2008 2014
dbSNP: rs1451240
rs1451240
3 0.923 0.071 8 42691568 intergenic variant A/G snp 0.65 0.810 1.000 1 2013 2013
dbSNP: rs2273500
rs2273500
4 0.846 0.143 20 63355597 splice acceptor variant T/C snp 0.16 0.16 0.700 1 2016 2016
dbSNP: rs34684276
rs34684276
2 1.000 0.071 15 78520813 intron variant G/A snp 0.23 0.700 1 2016 2016
dbSNP: rs56247223
rs56247223
1 1.000 0.071 3 54608201 intron variant G/A snp 0.25 0.700 1 2017 2017
dbSNP: rs77109747
rs77109747
1 1.000 0.071 1 34947470 intergenic variant G/A snp 4.1E-02 0.700 1 2017 2017
dbSNP: rs16969968
rs16969968
20 0.699 0.214 15 78590583 missense variant G/A snp 0.26 0.24 0.100 1.000 16 2009 2017
dbSNP: rs578776
rs578776
10 0.756 0.179 15 78596058 3 prime UTR variant G/A snp 0.39 0.050 1.000 5 2009 2014
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.040 1.000 4 2006 2014
dbSNP: rs11636753
rs11636753
3 0.878 0.107 15 78636604 intron variant G/T snp 0.36 0.020 1.000 2 2012 2016
dbSNP: rs2236196
rs2236196
1 1.000 0.071 20 63346204 3 prime UTR variant G/A,C snp 0.71 0.64 0.020 1.000 2 2005 2009
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.020 1.000 2 2015 2015
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.020 1.000 2 2015 2015
dbSNP: rs10082479
rs10082479
1 1.000 0.071 10 49621173 intron variant A/T snp 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1042173
rs1042173
5 0.846 0.107 17 30197993 3 prime UTR variant A/C snp 0.41 0.010 1.000 1 2014 2014
dbSNP: rs1044394
rs1044394
1 1.000 0.071 20 63350733 synonymous variant A/G snp 0.92 0.85 0.010 1.000 1 2011 2011
dbSNP: rs1044396
rs1044396
2 0.923 0.071 20 63349782 missense variant G/A,C snp 0.47; 6.1E-05 0.40 0.010 1.000 1 2004 2004
dbSNP: rs1044397
rs1044397
1 1.000 0.071 20 63349752 synonymous variant C/T snp 0.48 0.41 0.010 1.000 1 2004 2004
dbSNP: rs1131339
rs1131339
2 0.923 0.071 9 99865020 3 prime UTR variant A/G snp 0.45 0.010 1.000 1 2011 2011
dbSNP: rs11634351
rs11634351
3 1.000 0.071 15 78652376 G/A snp 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1176744
rs1176744
16 0.715 0.143 11 113932306 missense variant A/C snp 0.33 0.34 0.010 1.000 1 2014 2014
dbSNP: rs12266458
rs12266458
1 1.000 0.071 10 49639951 intron variant C/T snp 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.010 1.000 1 2014 2014
dbSNP: rs12466358
rs12466358
1 1.000 0.071 2 232532815 intron variant T/G snp 0.22 0.010 1.000 1 2011 2011
dbSNP: rs12519
rs12519
1 1.000 0.071 9 89013167 3 prime UTR variant T/A,C snp 0.43 0.010 1.000 1 2007 2007