Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2424913 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 18
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
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
rs1801200 0.790 0.200 17 39723335 missense variant A/G;T snv 7
rs2302254 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 15
rs6917
PHB
0.790 0.200 17 49404181 3 prime UTR variant G/A snv 0.16 7
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36