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: rs1555621454
rs1555621454
NAGLU
1.000 0.120 17 42536546 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017