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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs1441937959 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs4149117 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs80338701 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs1801265 0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs190521996 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs4969170 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 11
rs867593888 0.882 0.200 22 36292059 missense variant T/C snv 11
rs2297595 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 10
rs397518423 0.790 0.240 1 9726972 missense variant G/A snv 10
rs1556620697 0.827 0.360 X 124365758 splice region variant C/G snv 10
rs2287886 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 9
rs138924661 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 9
rs67376798 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 9
rs104894815 0.776 0.120 X 48792337 missense variant G/A snv 9