Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 36
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 34
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs11549467 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs2057482 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 15
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 19
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs375874539 0.732 0.320 17 7674237 missense variant G/A;C snv 5
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 15
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 10
rs11568818 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs4987188 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10