Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE SPINK1 N34S mutation enhances the susceptibility of AP. 15782101

2005

dbSNP: rs777418530
rs777418530
0.020 GeneticVariation BEFREE SPINK1 N34S mutation enhances the susceptibility of AP. 15782101

2005

dbSNP: rs111033565
rs111033565
0.030 GeneticVariation BEFREE The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable. 16354799

2006

dbSNP: rs267606982
rs267606982
0.030 GeneticVariation BEFREE The cationic trypsinogen (PRSS1) R122H mutation causes autosomal dominant hereditary pancreatitis (HP) with multiple attacks of acute pancreatitis, but the penetrance, frequency, and severity of attacks are highly variable. 16354799

2006

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly polymorphism is associated with the infection of pancreatic necrosis in AP. 17414051

2007

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE In view of the inflammatory nature of acute pancreatitis, we aimed to determine the predictive value of two point mutations in the promoter region at position -550 (H/L variants) and -221 (X/Y variants) of the MBL2 gene, and the Asp299Gly and 119C>A polymorphisms of the TLR4 gene on the occurrence of severe acute pancreatitis (SAP). 18288881

2008

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE The SPINK1 N34S variant is associated with acute pancreatitis. 18617776

2008

dbSNP: rs777418530
rs777418530
0.020 GeneticVariation BEFREE The SPINK1 N34S variant is associated with acute pancreatitis. 18617776

2008

dbSNP: rs61734659
rs61734659
0.020 GeneticVariation BEFREE The p.G191R variant protected against alcoholic and idiopathic chronic pancreatitis as well as alcoholic acute pancreatitis in Japan. 19052022

2009

dbSNP: rs748405415
rs748405415
0.020 GeneticVariation BEFREE The p.G191R variant protected against alcoholic and idiopathic chronic pancreatitis as well as alcoholic acute pancreatitis in Japan. 19052022

2009

dbSNP: rs5275
rs5275
0.010 GeneticVariation BEFREE These findings suggest that the rs5275 polymorphism in the 3'-untranslated region of the COX-2 gene may be used as 1 marker for defining the risk of AP. 19820421

2010

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE The SPINK1 N34S polymorphism was not associated with the sentinel AP attack, but it substantially increases the risk of recurrent attacks. 19888199

2010

dbSNP: rs111033565
rs111033565
0.030 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs267606982
rs267606982
0.030 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs61734659
rs61734659
0.020 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs748405415
rs748405415
0.020 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs139635080
rs139635080
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs146966861
rs146966861
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs752688735
rs752688735
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs756271986
rs756271986
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs764176833
rs764176833
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407

2011

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE The SPINK1 variant p.N34S is overrepresented in patients with acute pancreatitis, but more studies distinguishing between first-time and recurrent acute pancreatitis have to be done to determine whether this is only true for patients with recurrent acute pancreatitis. 22228370

2012

dbSNP: rs2071746
rs2071746
0.010 GeneticVariation BEFREE The GT-repeat and SNP rs2071746 were investigated with fluorescence labelled primers and by melting curve analysis in 285 patients with acute pancreatitis, 208 patients with alcoholic CP, 207 patients with idiopathic/hereditary CP, 147 patients with alcoholic liver cirrhosis, and in 289 controls, respectively. 22666428

2012

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with controls, suggesting that the SPINK1 N34S mutation represents an etiologic risk factor for AP in our Mexican pediatric patients. 22699143

2012

dbSNP: rs111033565
rs111033565
0.030 GeneticVariation BEFREE The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. 22699143

2012