Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1989839 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 8
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs587780128 0.882 0.160 7 152649010 missense variant G/A snv 1.2E-05 3.5E-05 3
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs2287498 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 4
rs2287497 0.882 0.120 17 7689462 intron variant G/A snv 0.25 3
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs2146323 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 13
rs3025033 0.807 0.360 6 43783338 non coding transcript exon variant A/G snv 0.18 6
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs2516839 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 14
rs3737787 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 11
rs4648551 0.882 0.120 1 3716166 intron variant G/A snv 0.32 3
rs6695978 0.882 0.120 1 3731781 intron variant G/A snv 7.3E-02 3
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
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs876660754 0.701 0.360 17 7675095 missense variant C/A;T snv 20
rs1131691022 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 6
rs1321845532 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 4