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: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2018
dbSNP: rs1050283
rs1050283
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs6218
rs6218
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs978458
rs978458
2 0.925 0.120 12 102408461 intron variant T/C snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs2072592
rs2072592
2 0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs7956547
rs7956547
2 0.925 0.120 12 102465038 intron variant T/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs2162679
rs2162679
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2066715
rs2066715
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2010 2010
dbSNP: rs688
rs688
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2012 2012
dbSNP: rs5925
rs5925
7 0.851 0.200 19 11120205 synonymous variant T/C snv 0.42 0.37 0.010 1.000 1 2012 2012
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs494860
rs494860
1 1.000 0.120 13 113164695 intron variant T/A snv 0.26 0.19 0.010 1.000 1 2018 2018
dbSNP: rs619203
rs619203
6 0.851 0.160 6 117301021 missense variant G/C snv 0.20 0.19 0.010 1.000 1 2008 2008
dbSNP: rs529038
rs529038
6 0.827 0.120 6 117301070 missense variant C/G;T snv 0.20 0.19 0.010 1.000 1 2008 2008
dbSNP: rs750272074
rs750272074
2 1.000 0.120 6 117362705 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2010
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2004 2010
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2014
dbSNP: rs4245191
rs4245191
2 0.925 0.200 11 119182117 missense variant C/A snv 0.56 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2014