Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2294757 6 132713959 missense variant G/A snv 0.45 0.53 3
rs4746172
VCL
10 74096084 intron variant C/T snv 0.73 3
rs1012657750 1 151368294 missense variant G/C snv 2
rs1042309696
ACE
17 63487006 synonymous variant T/C snv 2
rs1058261
DES
2 219420587 synonymous variant C/T snv 0.33 0.37 2
rs11961407 6 31154630 missense variant G/A snv 3.0E-03 1.3E-02 2
rs12155400 7 18389298 intron variant A/G snv 2.9E-02 2
rs12402521 1 186453389 intron variant G/A snv 0.33 2
rs1249051329 1 151369834 synonymous variant T/C snv 3.5E-05 2
rs150759461 16 15778831 missense variant G/A snv 1.7E-03 1.7E-03 2
rs1800321
OTC
X 38367350 missense variant A/G snv 0.19 0.26 2
rs1978124 X 15599940 intron variant T/A;C snv 2
rs3851059 10 80270902 downstream gene variant G/A snv 0.27 2
rs653747 15 97659878 intron variant C/T snv 0.48 2
rs7087728 10 80273714 3 prime UTR variant G/A;C snv 2
rs762304200 17 7630716 synonymous variant A/G snv 2.8E-05 2
rs771038258 1 151365837 missense variant A/G snv 8.0E-06 2.1E-05 2
rs10086846 8 142915715 intron variant C/A;T snv 1
rs1042039
XDH
2 31335440 3 prime UTR variant T/C snv 0.41 1
rs10491093 17 10978681 intergenic variant T/G snv 0.72 1
rs10491334 5 111436706 intron variant C/T snv 0.14 1
rs10509676 10 94763288 intron variant A/G;T snv 0.16 1
rs10519963 4 148376523 intron variant G/A snv 0.12 1
rs10520097 2 11793260 intron variant A/G snv 0.12 1
rs1054889
XDH
2 31334442 3 prime UTR variant G/A snv 0.40 1