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: rs10889353
rs10889353
5 1 62652525 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1168029
rs1168029
1 1 62503731 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs17610395
rs17610395
1 11 68794860 missense variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.700 1.000 1 2009 2009
dbSNP: rs186183604
rs186183604
1 11 67361262 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2229738
rs2229738
2 11 68794860 missense variant C/G;T snv 6.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs4245791
rs4245791
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4939883
rs4939883
5 1.000 0.040 18 49640844 TF binding site variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs506585
rs506585
4 2 21174310 intergenic variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6065906
rs6065906
6 20 45925376 downstream gene variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs67418890
rs67418890
1 1 161571067 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs7499892
rs7499892
7 16 56972678 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs17249141
rs17249141
4 19 11089332 upstream gene variant C/T snv 3.3E-03 0.700 1.000 1 2013 2013
dbSNP: rs190121281
rs190121281
1 19 19141970 upstream gene variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs181807530
rs181807530
1 17 4871519 intron variant C/G snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs115136538
rs115136538
1 4 72456848 intron variant T/C snv 5.7E-03 0.800 1.000 1 2012 2012
dbSNP: rs72669744
rs72669744
1 1 55650832 intron variant C/T snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs17111684
rs17111684
4 1 55159875 intron variant C/T snv 3.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs4803750
rs4803750
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.800 1.000 1 2012 2012
dbSNP: rs115849089
rs115849089
7 8 20054859 intergenic variant G/A snv 9.8E-02 0.800 1.000 1 2012 2012