Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs1800925 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs879253942 0.677 0.400 17 7673826 missense variant A/G snv 28