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
rs1042821 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs1044129 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 9
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
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
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs13254738 0.807 0.160 8 127092098 non coding transcript exon variant C/A;T snv 8
rs1418586322 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 6
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs17878467 0.925 0.080 17 78214076 upstream gene variant C/G;T snv 6
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97