Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35986369 1.000 0.040 3 19950975 frameshift variant -/GG delins 2
rs1057518839
MPZ
1.000 1 161305924 missense variant A/C snv 4
rs1057524157 0.776 0.200 11 686962 missense variant A/C;T snv 19
rs3810651 0.925 0.080 X 152652814 missense variant A/C;T snv 4
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs1052553 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 8
rs12593813 1.000 0.080 15 67744514 intron variant A/G snv 0.53 2
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104894158 0.851 0.080 10 62813835 missense variant A/T snv 5
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs869312713 0.882 0.320 16 89280070 stop gained C/A snv 6
rs80356727 0.925 0.080 1 11022400 missense variant C/A snv 3
rs76732092 11 18358030 missense variant C/A snv 1
rs3173615 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs80338777 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 10
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs4292394 4 69107231 synonymous variant C/G snv 0.56 0.59 2
rs6600879 4 69094669 intron variant C/G snv 0.58 1
rs6280 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 57
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 52
rs752362727 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs606231435 0.827 0.240 19 41970539 missense variant C/T snv 18
rs74315431 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 15