Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs121913452 0.851 0.080 9 130873027 missense variant T/A;C;G snv 4
rs2077647 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 16
rs10251201 0.851 0.160 7 7932654 intron variant T/A;C snv 4
rs11079041 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 4
rs9318227 0.882 0.080 13 73926833 intron variant T/A;C snv 3
rs7804372 0.716 0.320 7 116554174 intron variant T/A snv 0.27 19
rs3757733 1.000 0.040 7 116553675 intron variant T/A snv 0.26 4
rs7939734 1.000 0.040 11 70208839 upstream gene variant T/A snv 0.57 1
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs3734091 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 19
rs869312953 0.851 0.120 1 64846735 missense variant G/T snv 5
rs766274360 0.882 0.040 16 2713697 missense variant G/T snv 1.2E-05 3
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs4246215 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs1057519766 0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1801132 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 22
rs3794845
MBP
0.882 0.120 18 77002561 intron variant G/C snv 0.12 3
rs2301696 1.000 0.040 11 2405754 intron variant G/C snv 0.43 2
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187