Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 53
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
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
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
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 42
rs118101777 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-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