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: rs10819689
rs10819689
1 1.000 0.080 9 99637981 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11788118
rs11788118
1 1.000 0.080 9 99575049 intron variant G/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2072450
rs2072450
2 0.925 0.160 16 9821855 intron variant C/A snv 9.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs4690229
rs4690229
1 1.000 0.080 4 976936 intron variant A/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs13101828
rs13101828
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs8023715
rs8023715
1 1.000 0.080 15 97064451 intergenic variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs4869313
rs4869313
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs3733345
rs3733345
1 1.000 0.080 4 960459 3 prime UTR variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs6601327
rs6601327
1 1.000 0.080 8 9538022 intergenic variant G/A snv 0.56 0.800 1.000 2 2008 2017
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.040 0.750 4 2014 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 0.500 2 2017 2019
dbSNP: rs1133906
rs1133906
2 0.925 0.080 7 93135669 synonymous variant C/T snv 0.22 0.28 0.700 1.000 1 2013 2013
dbSNP: rs11578098
rs11578098
1 1.000 0.080 1 92653853 intron variant G/A snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6662618
rs6662618
3 0.882 0.200 1 92469854 downstream gene variant T/G snv 0.75 0.700 1.000 1 2017 2017
dbSNP: rs12753920
rs12753920
1 1.000 0.080 1 92200342 upstream gene variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs597325
rs597325
2 0.925 0.160 6 90292775 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs9515692
rs9515692
1 1.000 0.080 13 90141725 intergenic variant C/T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs73846279
rs73846279
1 1.000 0.080 3 89842195 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs16900627
rs16900627
4 0.882 0.160 8 89790767 3 prime UTR variant A/G snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs16900617
rs16900617
1 1.000 0.080 8 89790263 synonymous variant A/G snv 2.1E-02 6.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs2234767
rs2234767
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs4945
rs4945
2 0.925 0.120 15 88913313 missense variant G/T snv 0.38 0.31 0.010 1.000 1 2019 2019