rs199769221, PRSS1

N. diseases: 8
Disease: Primary hyperoxaluria, type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary hyperoxaluria, type I
CUI: C0268164
Disease: Primary hyperoxaluria, type I
0.010 GeneticVariation BEFREE We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis. 9322498 1997