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: rs505922
rs505922
24 0.724 0.357 None NA snp 0.37 0.030 1.000 3 2009 2015
dbSNP: rs766333007
rs766333007
7 0.784 0.143 1 155192274 missense variant C/T snp 3.2E-05 0.030 1.000 3 2013 2015
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 0.500 2 2005 2006
dbSNP: rs12029406
rs12029406
3 0.878 0.107 1 199936700 intergenic variant C/T snp 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs3790843
rs3790843
6 0.821 0.143 1 200041696 intron variant C/T snp 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3790844
rs3790844
5 0.846 0.107 1 200038304 intron variant A/C,G snp 0.26 0.010 1.000 1 2016 2016
dbSNP: rs486907
rs486907
16 0.715 0.286 1 182585422 missense variant C/T snp 0.31 0.30 0.010 < 0.001 1 2006 2006
dbSNP: rs74315364
rs74315364
8 0.784 0.143 1 182586014 stop gained C/A snp 3.6E-03; 4.0E-06 3.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs751856545
rs751856545
6 0.846 0.107 1 22784767 missense variant C/A,T snp 8.0E-06; 4.0E-06 3.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs768086151
rs768086151
2 0.923 0.107 1 3722159 missense variant G/A snp 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1042821
rs1042821
11 0.756 0.214 2 47783349 missense variant G/A,C snp 0.18; 8.6E-06 0.19 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
26 0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2229629
rs2229629
HK2
4 0.878 0.107 2 74889400 missense variant G/A snp 6.0E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs231775
rs231775
38 0.608 0.536 2 203867991 missense variant A/G,T snp 0.42; 4.0E-06 0.42 0.010 1.000 1 2012 2012
dbSNP: rs243021
rs243021
3 0.878 0.143 2 60357684 intergenic variant G/A snp 0.45 0.010 1.000 1 2011 2011
dbSNP: rs4668123
rs4668123
3 0.923 0.107 2 169196995 missense variant snp 0.010 1.000 1 2016 2016
dbSNP: rs587779067
rs587779067
7 0.821 0.179 2 47416399 missense variant C/G,T snp 0.010 1.000 1 2012 2012
dbSNP: rs780094
rs780094
44 0.699 0.286 2 27518370 intron variant T/C snp 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.020 1.000 2 2009 2015
dbSNP: rs762581936
rs762581936
4 0.846 0.107 3 195788569 C/T snp 1.1E-05; 1.1E-05 3.2E-05; 3.2E-05 0.020 1.000 2 2013 2015
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055
3 0.878 0.143 3 122119472 missense variant G/A snp 0.30 0.26 0.010 1.000 1 2013 2013
dbSNP: rs145574072
rs145574072
2 0.923 0.107 3 9754765 synonymous variant T/C snp 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs149243735
rs149243735
2 0.923 0.107 3 9751076 missense variant C/A snp 4.0E-06 0.010 1.000 1 2014 2014