Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2302254 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 15
rs2424913 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 18
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs6917
PHB
0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 7
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2303428 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157