Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1902023 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 4
rs627928 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 10
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 45
rs2735839 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 5
rs28366003 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 10
rs565453 0.882 0.160 5 112849696 intron variant A/C;G snv 4
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 110
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs35767 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 28
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs10993994 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 10
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1197734477 0.925 0.080 10 87961012 missense variant A/G snv 4
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 17
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 9
rs16901946 0.827 0.160 8 127088680 non coding transcript exon variant A/G snv 1.7E-02 8
rs16901966 0.925 0.080 8 127098007 intron variant A/G snv 0.13 3
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs1800682 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 25