PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033565
rs111033565
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0262417
Disease:
Acute on chronic pancreatitis
0.010 GeneticVariation BEFREE The discovery that mutations in the cationic trypsinogen gene (R122H, N29I) predisposed to acute and chronic pancreatitis focused attention on possible genetic predispositions. 12828958 2003
dbSNP: rs111033566
rs111033566
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0262417
Disease:
Acute on chronic pancreatitis
0.010 GeneticVariation BEFREE The discovery that mutations in the cationic trypsinogen gene (R122H, N29I) predisposed to acute and chronic pancreatitis focused attention on possible genetic predispositions. 12828958 2003
dbSNP: rs267606982
rs267606982
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0262417
Disease:
Acute on chronic pancreatitis
0.010 GeneticVariation BEFREE The discovery that mutations in the cationic trypsinogen gene (R122H, N29I) predisposed to acute and chronic pancreatitis focused attention on possible genetic predispositions. 12828958 2003
dbSNP: rs199769221
rs199769221
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0262417
Disease:
Acute on chronic pancreatitis
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