Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894597
rs104894597
NAGLU
1.000 0.120 17 42543699 missense variant C/T snv 3.2E-05 3.5E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 21 1998 2017