Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1801200 0.790 0.200 17 39723335 missense variant A/G;T snv 7
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 98
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs2303428 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 110
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213