rs1223231582, PRSS1

N. diseases: 24
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.050 GeneticVariation BEFREE A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP. 17613931 2007
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.050 GeneticVariation BEFREE Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis. 15084977 2004
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.050 GeneticVariation BEFREE The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP. 11866271 2002
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.050 GeneticVariation BEFREE N34S was found in 4/108 affected HP patients (p=0.724 v controls), in 3/27 (11%) with wild-type and in 1/81 (1%) with mutant PRSS1, and 4/67 ACP patients (all p>0.05 v controls). 11950815 2002
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.050 GeneticVariation BEFREE Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1). 11729110 2001