Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease. 26100556

2015

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE Six children with severe acute pancreatitis had SPINK1 N34S mutations (25%, p<0.05), and 4 were homozygous. 25981744

2015

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP in the Indian population, irrespective of disease etiology and whether the disease was recurrent or not, and was associated with disease onset at an earlier age. 24844923

2014

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

2008

dbSNP: rs17107315
rs17107315
0.080 GeneticVariation BEFREE SPINK1 N34S mutation enhances the susceptibility of AP. 15782101

2005

dbSNP: rs10273639
rs10273639
0.030 GeneticVariation BEFREE Our findings suggested that rs7057398, rs12688220 and rs10273639 polymorphisms could be used to identify individuals at an elevated susceptibility to acute pancreatitis in Caucasians. 31163246

2020

dbSNP: rs10273639
rs10273639
0.030 GeneticVariation BEFREE Meta-analyses of all AP patients depicted significant (p-value < 0.05) associations for rs10273639 (odds ratio (OR) 0.88, 95% confidence interval (CI) 0.81-0.97, p-value 0.01), rs7057398 (OR 1.27, 95% CI 1.07-1.5, p-value 0.005), and rs12688220 (OR 1.32, 95% CI 1.12-1.56, p-value 0.001). 29884332

2018

dbSNP: rs10273639
rs10273639
0.030 GeneticVariation BEFREE We confirmed a robust association of polymorphism rs10273639 at PRSS1-PRSS2 with AP in the Russian population. 27846138

2017

dbSNP: rs1800896
rs1800896
0.030 GeneticVariation BEFREE IL-10 gene rs1800896 polymorphism increases the risk of AP. 29310417

2017

dbSNP: rs1800896
rs1800896
0.030 GeneticVariation BEFREE In a dominant model, we found that the GA+AA genotype of IL-10 rs1800896 was associated with an elevated risk of acu</span>te pancreatitis (OR = 1.51, 95%CI = 1.05-2.18). 26634555

2015

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE Our current meta-analysis suggests that TLR4 Asp299Gly and Thr399Ile polymorphisms may not be risk factors to AP susceptibility. 24914392

2014

dbSNP: rs1800896
rs1800896
0.030 GeneticVariation BEFREE However, there were no significant associations between IL-1β (IL-1β +3954 C/T (rs1143634) and IL-1β -511 C/T (rs16944)), IL-6 (IL-6 -174 G/C (rs1800795) and IL-6 -634 C/G (rs1800796)) and IL-10 (IL-10 -1082 A/G (rs1800896), IL-10 -819 C/T (rs1800871) and IL-10 -592 C/A (rs1800872)) gene polymorphisms and AP risk. 24072654

2013

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

dbSNP: rs267606982
rs267606982
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

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: 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: 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: 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: rs12688220
rs12688220
0.020 GeneticVariation BEFREE Our findings suggested that rs7057398, rs12688220 and rs10273639 polymorphisms could be used to identify individuals at an elevated susceptibility to acute pancreatitis in Caucasians. 31163246

2020

dbSNP: rs7057398
rs7057398
0.020 GeneticVariation BEFREE Our findings suggested that rs7057398, rs12688220 and rs10273639 polymorphisms could be used to identify individuals at an elevated susceptibility to acute pancreatitis in Caucasians. 31163246

2020