Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606982
rs267606982
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: rs267606982
rs267606982
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: rs267606982
rs267606982
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.900 GeneticVariation UNIPROT The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families. 11866271

2002

dbSNP: rs267606982
rs267606982
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: rs267606982
rs267606982
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: rs267606982
rs267606982
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: rs267606982
rs267606982
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: rs267606982
rs267606982
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: rs267606982
rs267606982
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.900 GeneticVariation UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818

1998

dbSNP: rs267606982
rs267606982
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: rs267606982
rs267606982
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