PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144403091
rs144403091
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.010 GeneticVariation BEFREE The first mutation was detected at the R122 autocleavage site of the protein (R122H) and subsequently two other mutations in this region, R122C and V123M, were described that resulted in a similar phenotype of hereditary pancreatitis. 18511571 2008