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: rs2081687
rs2081687
6 0.882 0.240 8 58476006 intergenic variant T/C snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs230119
rs230119
2 1.000 0.080 9 119152945 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2315065
rs2315065
1 1.000 0.080 6 160687112 intergenic variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs28451064
rs28451064
3 0.925 0.080 21 34221526 intron variant G/A snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs3917639
rs3917639
2 0.925 0.120 1 94527220 downstream gene variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs4593108
rs4593108
2 0.925 0.080 4 147359849 regulatory region variant C/G snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs490556
rs490556
1 1.000 0.080 5 4022536 intergenic variant G/A snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs521660
rs521660
1 1.000 0.080 5 4035819 intron variant T/C snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs562338
rs562338
21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 < 0.001 1 2014 2014
dbSNP: rs6941513
rs6941513
1 1.000 0.080 6 163609768 intergenic variant A/G snv 0.45 0.710 1.000 1 2016 2016
dbSNP: rs708495
rs708495
3 0.925 0.120 14 52302622 intergenic variant T/A snv 0.57 0.010 < 0.001 1 2006 2006
dbSNP: rs7136716
rs7136716
6 0.851 0.080 12 7538538 regulatory region variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs7211079
rs7211079
1 1.000 0.080 17 80133738 downstream gene variant A/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs7213516
rs7213516
3 0.882 0.080 17 63474189 upstream gene variant G/A snv 5.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs822387
rs822387
1 1.000 0.080 3 186838248 upstream gene variant T/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs9974610
rs9974610
3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2014 2014
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2006 2006
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2004 2004
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2004 2004
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs13301354
rs13301354
1 1.000 0.080 9 137030185 3 prime UTR variant T/C snv 0.64 0.700 1.000 1 2011 2011