Source: CLINVAR

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: rs777295041
rs777295041
IDUA
0.925 0.120 4 1000880 splice acceptor variant A/G snv 3.6E-05 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.700 1.000 7 1994 2017