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
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1800471 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1565679039 0.701 0.400 12 47983399 stop gained T/A snv 45
rs886041065 0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs3761548 0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs1178187217 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs1800925 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs17855750 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 21
rs555743307 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 20
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv 16
rs2227284
IL4
0.732 0.480 5 132677033 intron variant T/C;G snv 12
rs8076131 0.790 0.200 17 39924659 intron variant G/A;C snv 11
rs4794820 0.790 0.160 17 39933091 intron variant A/G;T snv 9
rs1234314 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 7
rs2428494 0.827 0.160 6 31354420 intron variant T/A;C snv 5
rs17513503 0.882 0.120 5 110810746 intergenic variant C/A;G snv 3
rs360721 0.882 0.200 11 112155193 intron variant G/A;C snv 3
rs438421 0.882 0.200 19 18065276 intron variant A/G;T snv 3
rs6692977 0.882 0.200 1 157517598 intron variant T/C;G snv 3
rs11966760 0.925 0.120 6 52222236 intergenic variant T/A;G snv 2
rs1523643 0.925 0.120 8 16931726 intergenic variant G/A;T snv 2
rs17740607
HDC
0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 2