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: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs10454134
rs10454134
1 1.000 0.200 2 48420887 TF binding site variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016
dbSNP: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs104895083
rs104895083
2 0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs104895094
rs104895094
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs104895297
rs104895297
MVK
3 0.882 0.360 12 109581427 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs10515746
rs10515746
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs1065407
rs1065407
1 1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs111874856
rs111874856
1 1.000 0.200 18 21028924 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs112108028
rs112108028
1 1.000 0.200 18 20959861 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs112130712
rs112130712
1 1.000 0.200 18 20967783 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.010 1.000 1 2016 2016
dbSNP: rs1126772
rs1126772
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2012 2012
dbSNP: rs11574944
rs11574944
1 1.000 0.200 16 30498669 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2013 2013
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11755527
rs11755527
5 0.851 0.360 6 90248512 intron variant C/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs11769828
rs11769828
1 1.000 0.200 7 150534221 intergenic variant C/T snv 0.19 0.010 1.000 1 2013 2013