Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1367117 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 8
rs1169286 1.000 0.080 12 120981253 intron variant T/C snv 0.39 3
rs12632110 1.000 0.080 3 50186792 intron variant A/G snv 0.63 0.62 3
rs2251393 1.000 0.080 17 62701571 3 prime UTR variant G/A;C snv 0.85; 4.9E-05 3
rs2301339 1.000 0.080 12 6845460 3 prime UTR variant G/A;T snv 3
rs2781668 1.000 0.080 6 131576138 intron variant C/T snv 0.16 3
rs532436
ABO
1.000 0.080 9 133274414 intron variant A/G;T snv 3
rs7913948 1.000 0.080 10 45373441 upstream gene variant G/A snv 0.17 3
rs9974610 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 3
rs11748327 1.000 0.080 5 4029676 downstream gene variant C/T snv 0.21 2
rs1213545562
TH
1.000 0.080 11 2166984 synonymous variant G/A snv 9.6E-06 2
rs12487736 1.000 0.080 3 47418189 missense variant C/T snv 0.54 0.47 2
rs1380959039 1.000 0.080 10 77086524 synonymous variant A/G snv 4.0E-06 2
rs1384915680
TH
1.000 0.080 11 2166903 synonymous variant G/A snv 4.3E-06 2
rs1395479 1.000 0.080 4 177397037 intergenic variant C/A;T snv 2
rs16964543 1.000 0.080 19 30694303 intron variant T/C snv 0.32 2
rs2001846 1.000 0.080 8 125466208 upstream gene variant T/A;C snv 2
rs230119 1.000 0.080 9 119152945 downstream gene variant C/A;T snv 2
rs347519 1.000 0.080 19 43769364 synonymous variant T/C snv 0.24 0.31 2
rs35599367 1.000 0.080 7 99768693 intron variant G/A snv 3.2E-02 2
rs3809346 1.000 0.080 13 110308596 intron variant G/A;C snv 2
rs4363
ACE
1.000 0.080 17 63497131 splice region variant G/A;C snv 0.52 2
rs6475608 1.000 0.080 9 22101703 intron variant T/C snv 0.60 2
rs6809699 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 2
rs7447815 1.000 0.080 5 1240642 stop gained C/G;T snv 0.36; 7.6E-05 2