Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 47
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 42
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 42
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
rs121912664 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 40
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 36
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 29
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 28
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27