Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2303428 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs6917
PHB
0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 7
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs2302254 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 15
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
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