Disease: Mucopolysaccharidoses
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118204437
GALNS ; LOC107987238
0.882 0.120 16 88824853 missense variant G/A snv 9.2E-05 4.9E-05 3
rs118204438
GALNS
0.882 0.120 16 88841077 missense variant T/A snv 4.0E-05 7.7E-05 3
rs118204443
GALNS
0.882 0.120 16 88832099 missense variant C/A snv 4.4E-05 8.4E-05 3
rs118204446
GALNS
0.925 0.120 16 88832065 missense variant G/C snv 2.0E-05 2.1E-05 2