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: rs115849089
rs115849089
7 8 20054859 intergenic variant G/A snv 9.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs190121281
rs190121281
1 19 19141970 upstream gene variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs312985
rs312985
2 2 21155933 regulatory region variant A/G snv 0.75 0.700 1.000 1 2009 2009
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 1 2012 2012
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: rs67418890
rs67418890
1 1 161571067 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs6754295
rs6754295
6 1.000 0.040 2 20983311 regulatory region variant T/G snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs6982636
rs6982636
7 8 125467073 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs72669744
rs72669744
1 1 55650832 intron variant C/T snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs2575876
rs2575876
7 9 104903458 intron variant G/A snv 0.24 0.800 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: rs115136538
rs115136538
1 4 72456848 intron variant T/C snv 5.7E-03 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: rs35853021
rs35853021
1 15 58388444 intron variant G/T snv 0.38 0.800 1.000 1 2012 2012
dbSNP: rs651821
rs651821
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.800 1.000 1 2012 2012
dbSNP: rs12713956
rs12713956
4 2 21018633 intron variant A/G snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 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: 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: 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: 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: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs1532624
rs1532624
12 0.851 0.160 16 56971567 intron variant C/A snv 0.34 0.700 1.000 1 2009 2009