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: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.900 0.917 24 2009 2018
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.900 0.913 23 2009 2019
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.100 0.938 16 2014 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 0.818 11 2012 2015
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.100 1.000 11 1995 2020
dbSNP: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.880 0.909 11 2011 2017
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.860 1.000 8 2011 2017
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.080 0.750 8 2011 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.050 1.000 5 2015 2020
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.040 1.000 4 2014 2019
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.040 0.750 4 2015 2018
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.730 0.750 4 2011 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.040 1.000 4 2001 2011
dbSNP: rs2395309
rs2395309
2 0.925 0.200 6 33058469 regulatory region variant A/G;T snv 0.28 0.710 1.000 4 2009 2013
dbSNP: rs3128917
rs3128917
2 0.925 0.200 6 33092219 non coding transcript exon variant T/G snv 0.33 0.720 1.000 4 2009 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2012 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.730 1.000 4 2011 2019
dbSNP: rs1042169
rs1042169
1 1.000 0.080 6 33080909 missense variant G/A;T snv 0.31; 1.4E-02 0.710 1.000 3 2013 2019
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.030 0.667 3 2017 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.030 0.667 3 2011 2015
dbSNP: rs2301220
rs2301220
1 1.000 0.080 6 33070989 intron variant C/A;T snv 0.700 1.000 3 2009 2013
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 0.667 3 2016 2019
dbSNP: rs3135021
rs3135021
2 0.925 0.080 6 33077781 intron variant G/A snv 0.32 0.710 0.667 3 2009 2016
dbSNP: rs9277542
rs9277542
4 0.851 0.280 6 33087470 3 prime UTR variant T/A;C snv 0.710 1.000 3 2012 2016