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: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 1.000 2 2002 2006
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2006 2006
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 < 0.001 1 2006 2006
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2006 2006
dbSNP: rs2066718
rs2066718
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs2229094
rs2229094
17 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs689470
rs689470
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs7080536
rs7080536
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs708494
rs708494
2 1.000 0.040 14 52300623 regulatory region variant G/A snv 0.47 0.010 < 0.001 1 2006 2006
dbSNP: rs708495
rs708495
3 0.925 0.120 14 52302622 intergenic variant T/A snv 0.57 0.010 < 0.001 1 2006 2006
dbSNP: rs7208693
rs7208693
MPO
4 0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs886039551
rs886039551
4 0.882 0.120 3 30674186 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.060 1.000 6 1999 2007
dbSNP: rs1234442507
rs1234442507
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.020 1.000 2 2005 2007
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2005 2007
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.020 1.000 2 2006 2007
dbSNP: rs463312
rs463312
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.020 1.000 2 2005 2007
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2000 2007
dbSNP: rs1042580
rs1042580
2 20 23046984 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs1191915875
rs1191915875
1 15 58563545 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1256049
rs1256049
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs1271572
rs1271572
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 1.000 1 2007 2007