Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4648068 0.790 0.240 4 102597148 intron variant A/G snv 0.31 9
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs6917
PHB
0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 7
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205