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: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 < 0.001 2 2013 2014
dbSNP: rs10065172
rs10065172
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs1009759
rs1009759
1 1.000 0.040 9 5556786 intron variant A/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2017 2017
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 < 0.001 1 2012 2012
dbSNP: rs1061680
rs1061680
2 1.000 0.040 19 54632001 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs11187265
rs11187265
1 1.000 0.040 10 93064409 missense variant G/A snv 0.10 8.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs14335
rs14335
2 1.000 0.040 1 157575060 3 prime UTR variant C/T snv 0.32 0.010 < 0.001 1 2012 2012
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2011 2011
dbSNP: rs2229094
rs2229094
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs2239704
rs2239704
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 < 0.001 1 2017 2017
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs6476985
rs6476985
1 1.000 0.040 9 5517559 intron variant C/T snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.010 < 0.001 1 2015 2015
dbSNP: rs6502867
rs6502867
3 0.882 0.120 17 5517008 intron variant C/T snv 0.82 0.010 < 0.001 1 2013 2013
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2017 2017
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2013 2013
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs878329
rs878329
4 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 0.010 < 0.001 1 2013 2013
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 0.500 4 2006 2018
dbSNP: rs11742270
rs11742270
1 1.000 0.040 5 35881341 downstream gene variant G/A snv 0.20 0.710 0.500 2 2013 2016