Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5744256 0.827 0.120 11 112152125 intron variant A/G snv 0.16 6
rs776035233 0.882 0.120 16 67940230 missense variant C/T snv 4.0E-06 5
rs104894808 0.851 0.120 X 48792376 missense variant G/T snv 4
rs779114194 0.925 0.120 16 67940017 missense variant T/C snv 1.4E-05 4
rs6051702 0.882 0.120 20 3271278 intron variant A/C snv 0.19 3
rs760370 0.925 0.120 6 44233216 intron variant A/G snv 0.36 3
rs775910328 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 3
rs866082104 0.925 0.120 X 75053456 missense variant C/T snv 3
rs11854484 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 2
rs1196547982 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 2
rs1470452230 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 2
rs7072268
HK1
0.925 0.120 10 69340157 intron variant T/C snv 0.54 2
rs1555545033 0.807 0.160 17 40088306 missense variant C/T snv 7
rs3775296 0.851 0.160 4 186076613 splice region variant C/A snv 0.18 0.18 6
rs1050829 0.827 0.160 X 154535277 missense variant T/A;C snv 1.7E-04; 2.6E-02 5
rs1057516674 0.882 0.160 17 42901026 frameshift variant GT/- del 5
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv 5
rs1934951 0.925 0.160 10 95038791 intron variant C/T snv 0.24 4
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 4
rs2071346 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 3
rs4645948 0.882 0.160 8 127736252 synonymous variant C/T snv 2.8E-02 3
rs373533 0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 2
rs1050828 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 15
rs7270101 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 10
rs708567 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 6