Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8126696 0.882 0.080 21 37358422 intron variant T/C snv 0.64 3
rs2070600 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs3764435 0.827 0.120 9 72901960 intron variant A/C;T snv 5
rs429358 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs1044396 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 17
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs5848 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 17
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs2420616 0.882 0.080 10 119316984 intron variant A/G snv 0.69 3
rs4752293 0.882 0.080 10 119342186 intron variant C/T snv 0.74 3
rs6313 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs334558 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 20
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs242557 0.752 0.200 17 45942346 intron variant G/A snv 0.36 12
rs767543900 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 10
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614