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: rs482759
rs482759
1 1.000 0.080 6 32227240 upstream gene variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs6941112
rs6941112
3 0.882 0.120 6 31978837 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs70993900
rs70993900
3 0.882 0.080 6 32618381 intergenic variant C/- delins 4.8E-02 0.710 1.000 1 2019 2019
dbSNP: rs7454108
rs7454108
2 0.925 0.120 6 32713706 upstream gene variant T/C snv 9.1E-02 0.710 1.000 1 2018 2018
dbSNP: rs9268542
rs9268542
4 0.851 0.280 6 32416944 intergenic variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs9275184
rs9275184
3 0.882 0.200 6 32686937 regulatory region variant T/C snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs9275312
rs9275312
6 0.807 0.280 6 32697951 intergenic variant A/G snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs9469220
rs9469220
5 0.827 0.160 6 32690533 TF binding site variant G/A snv 0.53 0.710 1.000 1 2019 2019
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.700 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2019