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: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs2734849
rs2734849
1 1.000 0.080 11 113399438 missense variant A/C;G snv 4.5E-06; 0.39 0.010 1.000 1 2009 2009
dbSNP: rs28399433
rs28399433
7 0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs910083
rs910083
2 1.000 0.080 20 32790884 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2011 2017
dbSNP: rs3733829
rs3733829
5 0.882 0.120 19 40804666 non coding transcript exon variant A/G snv 0.28 0.020 1.000 2 2012 2017
dbSNP: rs1044394
rs1044394
1 1.000 0.080 20 63350733 synonymous variant A/G snv 0.92 0.81 0.010 1.000 1 2011 2011
dbSNP: rs1122530
rs1122530
1 1.000 0.080 9 84849437 intron variant A/G snv 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1131339
rs1131339
2 0.925 0.080 9 99865020 3 prime UTR variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2006 2006
dbSNP: rs1317286
rs1317286
6 0.925 0.120 15 78603787 intron variant A/G snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs13273442
rs13273442
4 0.882 0.080 8 42688874 intergenic variant A/G snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs1451240
rs1451240
4 0.925 0.080 8 42691568 intergenic variant A/G snv 0.64 0.710 1.000 1 2012 2012
dbSNP: rs1659400
rs1659400
1 1.000 0.080 9 84711079 intron variant A/G snv 0.60 0.010 1.000 1 2007 2007
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.010 1.000 1 2005 2005
dbSNP: rs2060762
rs2060762
1 1.000 0.080 7 50461686 intron variant A/G snv 0.81 0.010 1.000 1 2005 2005
dbSNP: rs2279343
rs2279343
8 0.776 0.200 19 41009358 missense variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs2297313
rs2297313
1 1.000 0.080 9 89054447 intron variant A/G snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs4424567
rs4424567
1 1.000 0.080 10 13759269 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs507506
rs507506
1 1.000 0.080 17 7215003 intron variant A/G snv 0.55 0.010 1.000 1 2007 2007
dbSNP: rs774507706
rs774507706
1 1.000 0.080 6 154091093 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs777160724
rs777160724
1 1.000 0.080 11 113396169 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011