Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
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
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
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
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57