Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1982073 0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs113993959 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs74597325 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 18
rs78655421 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 18
rs77010898 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
rs1800076 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 10
rs75961395 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 10
rs397508638 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 9
rs74551128 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 8
rs77932196 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 8
rs76371115 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 6
rs113857788 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 5
rs121909005 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 5
rs267606723 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 5
rs121908753 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 4
rs121908761 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 4
rs121908792 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 4
rs121908799 0.851 0.160 7 117592218 frameshift variant AA/G delins 4