Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777418530
rs777418530
0.040 GeneticVariation BEFREE Our findings suggest protein structural changes in the N34S variant as an impairment of SPINK1 and environmental pH shift as a trigger that could play a role in disease progression of pancreatitis. 31525466

2020

dbSNP: rs777418530
rs777418530
0.040 GeneticVariation BEFREE Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population). 18076731

2008

dbSNP: rs777418530
rs777418530
0.040 GeneticVariation BEFREE Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both. 12227654

2002

dbSNP: rs777418530
rs777418530
0.040 GeneticVariation BEFREE The severity of pancreatitis did not differ between TCP patients with or without N34S, or among those heterozygous or homozygous for N34S. 12360463

2002