Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 15776435

2005
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). 14695529

2004
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I. 11788572

2002
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. 11866271

2002
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. 11073545

2000
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. 10930381

2000
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 10204851

1999
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. 10381903

1999
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818

1998
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 9322498

1997
dbSNP: rs111033566
rs111033566
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 GeneticVariation UNIPROT Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 8841182

1996