Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13255292 0.925 0.120 8 128064327 intron variant C/T snv 0.24 2
rs4733601 1.000 0.120 8 128257220 TF binding site variant A/G snv 0.41 1
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
rs143002189 1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04 3
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
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs79464052 1.000 0.120 5 141655607 intron variant G/C snv 7.1E-02 7.8E-02 1
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
rs6773854 1.000 0.120 3 187931631 downstream gene variant T/C snv 0.23 2
rs1323292 0.882 0.160 1 192571891 intron variant G/A snv 0.86 3
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs11045879 1.000 0.120 12 21229685 intron variant T/C snv 0.18 4
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
rs172378 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 11
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43