Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs172378 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 11
rs3813729
C1RL ; C1R
0.925 0.120 12 7089608 missense variant C/G;T snv 2
rs6449182 0.807 0.160 4 15778830 intron variant C/G snv 0.22 6
rs1443292790 1.000 0.120 17 63929438 missense variant T/C snv 2
rs9831894 0.882 0.120 3 122081640 intron variant A/C snv 0.31 3
rs2681416 0.925 0.120 3 122098766 intron variant G/A snv 0.26 2
rs751837 0.882 0.120 14 103018488 intron variant T/C snv 0.23 4
rs1426981647 0.925 0.200 22 28710038 missense variant T/C snv 4.0E-06 2
rs3025684 1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15 2
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs806321 0.851 0.160 13 50267187 intron variant C/T snv 0.47 4
rs777500092 1.000 0.120 2 25246231 missense variant G/A snv 8.0E-06 2
rs758653954
EFS
0.925 0.120 14 23357350 frameshift variant -/C delins 4.0E-06; 8.0E-06 2
rs931920092
EFS
0.925 0.120 14 23357350 missense variant G/A;C snv 2
rs20551 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 10
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1178732315
GBA
0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 3
rs1227230819 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 2
rs3957357 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 7
rs2523607 1.000 0.120 6 31355013 non coding transcript exon variant T/A snv 1
rs1800890 0.658 0.400 1 206776020 intron variant A/T snv 0.32 29
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108