Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
0.060 GeneticVariation BEFREE We studied 183 unrelated patients with AP and RAP and 168 healthy controls for p.N34S variant in SPINK1 gene using sequencing of genomic DNA. 24844923

2014

dbSNP: rs17107315
rs17107315
0.060 GeneticVariation BEFREE Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis.Two cases had the N34S SPINK1 mutation. 25206283

2014

dbSNP: rs17107315
rs17107315
0.060 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
0.060 GeneticVariation BEFREE SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. 19888199

2010

dbSNP: rs17107315
rs17107315
0.060 GeneticVariation BEFREE We did not find a statistically significant association of ARP or CP with the N34S SPINK-1 gene mutation. 19844201

2010

dbSNP: rs17107315
rs17107315
0.060 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
0.020 GeneticVariation BEFREE Direct sequencing results indicated the presence of two previously unidentified mutations in exon 2 of PRSS1 (V39E and N42S) in two patients with recurrent acute pancreatitis.Two cases had the N34S SPINK1 mutation. 25206283

2014

dbSNP: rs1223231582
rs1223231582
0.020 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: rs886037774
rs886037774
LPL
0.010 GeneticVariation BEFREE Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis. 28548960

2017

dbSNP: rs886037775
rs886037775
LPL
0.010 GeneticVariation BEFREE Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis. 28548960

2017

dbSNP: rs111033567
rs111033567
0.010 GeneticVariation BEFREE One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients. 25383785

2015

dbSNP: rs1800080
rs1800080
0.010 GeneticVariation BEFREE At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease. 20950468

2010

dbSNP: rs376907511
rs376907511
0.010 GeneticVariation BEFREE At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease. 20950468

2010