Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104893875 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 13
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs104893878 0.732 0.160 4 89835580 missense variant C/G snv 21
rs111501952 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 2
rs112176450 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 7
rs113994099 0.827 0.240 15 89320883 missense variant T/C snv 10
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs121918304 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 4
rs1224426272
CIT
0.925 0.040 12 119869138 missense variant C/T snv 6
rs1239756674 1.000 0.040 X 43743818 synonymous variant G/A snv 2
rs12817488 1.000 0.040 12 122811747 intron variant G/A snv 0.39 3
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 21
rs1290141855 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 3
rs143624519 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 17
rs188286943 0.776 0.160 16 46662452 missense variant C/T snv 9
rs201106962 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 5
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs2421947 1.000 0.040 1 171863954 intron variant C/G;T snv 2
rs242557 0.752 0.200 17 45942346 intron variant G/A snv 0.36 12
rs2942168 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 4
rs33939927 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 24
rs34015634 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78