Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9514067 1.000 0.160 13 102875580 stop gained G/C;T snv 1.00; 1.3E-04 1
rs6471482 1.000 0.120 8 86667075 stop gained A/C;T snv 0.89 0.89 1
rs949177 1.000 0.080 11 71441415 missense variant A/C;G;T snv 8.0E-06; 0.87 1
rs2815822 1.000 0.080 6 6320575 intron variant T/A;C;G snv 6.9E-06; 0.87 1
rs2227956 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 1
rs1051931 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 1
rs2306894 1.000 12 10098846 missense variant C/A;G snv 0.75 1
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs6467 0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03 2
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 1
rs1341667 0.925 0.040 10 68882104 missense variant T/C snv 0.62 0.57 1
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 1
rs2073711 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 1
rs2240340 1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54 1
rs237025 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 1
rs3733402 1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 1
rs2305764 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 1
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs25640 5 119475838 missense variant G/A;C snv 0.45 1
rs1805010 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 1
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 1
rs324981 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 1
rs2076530 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 1
rs12710260 1.000 0.080 19 11110781 intron variant G/A;C snv 1.2E-05; 0.40 1