Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965027
rs121965027
IDUA
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.710 GeneticVariation BEFREE The L490P mutation was apparently homozygous, whereas each of the others was found in compound heterozygosity with a Hurler mutation. 7550232

1995