Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis. 22699143

2012

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE The prevalence of the SPINK-1/N34S mutation in patients with CP is 5.4%, and is approximately 37.1% in patients with IP. 21375584

2011

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE Approximately 15-40% of patients with so-called idiopathic CP carry p.N34S on one allele or on both alleles. 21525753

2010

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE The two individuals with the N34S mutation did not have any signs of chronic pancreatitis. 17613931

2007

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). 16954950

2006

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation. 15084977

2004

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE Because the SPINK1 N34S mutation is very common in the general population, it is unlikely that this mutation alone can initiate the development of chronic pancreatitis. 15528018

2004

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group. 14560157

2003

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP. 12014716

2002

dbSNP: rs1223231582
rs1223231582
0.100 GeneticVariation BEFREE Our results suggested that the -215G>A alteration, as well as the N34S alteration, is a predisposing factor for CP. 11355022

2001