Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2276466 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 15
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45