rs397507442, PRSS1

N. diseases: 2
Disease: Pancreatitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
0.020 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
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
0.020 GeneticVariation BEFREE The activation peptides of the trypsinogen variants D22G and K23R could be released at a higher rate than in wild-type trypsinogen, resulting in increased amounts of trypsin in the pancreas, which could initiate pancreatitis. 10930381 2000