Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1129055 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 15
rs1915087 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 2
rs17281995 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 11
rs12508721 0.742 0.360 4 122623509 intron variant C/T snv 0.24 11
rs2972164 0.925 0.080 3 12292917 intron variant T/C snv 0.46 3
rs4684846 0.882 0.080 3 12297350 intron variant A/G snv 0.28 3
rs17036188 0.882 0.120 3 12299426 intron variant T/C snv 4.0E-02 3
rs10865710 0.763 0.360 3 12311699 intron variant C/G snv 0.25 13
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1556408009 0.925 0.200 X 123900534 stop gained C/T snv 3
rs595209 0.925 0.080 11 126292326 intron variant A/C;G snv 2
rs8177374 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 22
rs8177375 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 2
rs5743867 0.882 0.120 11 1307121 intron variant G/A;C snv 3
rs1153879 0.925 0.080 3 136392816 intron variant G/T snv 2
rs2563298 0.851 0.200 5 140631730 3 prime UTR variant C/A snv 0.26 4
rs2569190 0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs353291 0.807 0.200 5 149431183 non coding transcript exon variant T/C snv 0.35 6
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3804099 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 40
rs121917864 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 31
rs5743708 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 98
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 30
rs212388 0.827 0.240 6 159069404 intron variant C/G;T snv 8
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51