Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs845561 1.000 0.040 7 55185015 intron variant C/T snv 0.76 1
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11016879 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 4
rs2032809 0.882 0.120 19 47232959 upstream gene variant T/C snv 0.66 3
rs6970262 1.000 0.040 7 55192070 intron variant A/G snv 0.66 1
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs8126 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 8
rs1049430 1.000 0.040 9 17796670 3 prime UTR variant T/G snv 0.62 1
rs7213430 0.851 0.080 17 61682813 3 prime UTR variant G/A snv 0.61 6
rs2237025
KIT
0.882 0.080 4 54675713 intron variant T/C snv 0.60 3
rs710100 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 3
rs12452890 1.000 0.040 17 78134989 synonymous variant G/A snv 0.54 0.58 1
rs1380576 0.763 0.240 1 204519150 intron variant G/C snv 0.57 10
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs8136867 0.882 0.080 22 21850504 intron variant G/A snv 0.55 4
rs989902 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 12
rs2238151 1.000 0.040 12 111774029 intron variant T/C snv 0.52 3
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2072454 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 9
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs4075349 1.000 0.040 4 57110791 non coding transcript exon variant C/T snv 0.49 1
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3218211 1.000 0.040 1 23509302 3 prime UTR variant A/G snv 0.48 1