Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44