Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1312391542 0.925 0.120 6 106104897 missense variant G/A;T snv 2
rs7765004 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 2
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs1880030 0.925 0.120 12 122046634 intron variant G/A snv 0.39 2
rs7712513 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 2
rs1239470707 0.925 0.120 3 12416785 missense variant C/A snv 2
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1178732315
GBA
0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 3
rs6449182 0.807 0.160 4 15778830 intron variant C/G snv 0.22 6
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs1390458638 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 2
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140