Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs4532 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 7
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 69
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs3743075 1.000 0.040 15 78617110 missense variant T/A;C snv 4.0E-06; 0.66 1
rs12476147 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 4
rs42427
APC
1.000 0.040 5 112840628 synonymous variant G/A snv 0.65 0.60 1
rs1051169 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 5
rs465899
APC
0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60 3
rs6275 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 7
rs7627615 0.925 0.040 3 184100628 missense variant G/A;C snv 0.64; 4.0E-06 2
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs7813 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 22
rs1137070 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 9
rs2501432 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 16
rs2227947
MCC
0.925 0.120 5 113064094 missense variant G/A;T snv 0.61 0.50 2
rs2239647 0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 3
rs1126667 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 8
rs1366842 1.000 0.040 2 184937516 missense variant C/A;T snv 0.59; 4.1E-06 1
rs1042357 0.925 0.040 17 7001742 synonymous variant T/C;G snv 0.59 2
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 5
rs2983640 1.000 0.040 20 23605723 missense variant G/A snv 0.58 0.48 1
rs539689 0.925 0.080 6 31829810 synonymous variant C/G snv 0.57 0.52 2
rs4290270 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 17