rs775437927, CRISPLD2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
0.010 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731 2008
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
0.010 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731 2008
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
0.010 GeneticVariation BEFREE Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1). 11729110 2001