Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs11515 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 6
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs710100 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 3
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs12452890 1.000 0.040 17 78134989 synonymous variant G/A snv 0.54 0.58 1
rs7208422 0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51 6
rs2072454 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 9
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs989902 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 12
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs2498804 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 8
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs17568 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 12
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56