Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202003805
rs202003805
0.040 GeneticVariation BEFREE Penetrance of p.A16V is highly variable and family dependent, suggesting it contributes to multigenic inheritance of a predisposition to pancreatitis. 19951905

2010

dbSNP: rs202003805
rs202003805
0.040 GeneticVariation BEFREE Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis. 17148697

2006

dbSNP: rs202003805
rs202003805
0.040 GeneticVariation BEFREE The A16V mutation has a reduced penetrance, and its contribution to pancreatitis remains unclear. 15528021

2004

dbSNP: rs202003805
rs202003805
0.040 GeneticVariation BEFREE Possible predisposition to pancreatitis by additional DNA variants in the gene, such as the A16V signal peptide cleavage site mutation and the K23R activation peptide cleavage site mutation is suspected, but not proven. 10909845

2000