rs17107315, SPINK1

N. diseases: 40
Disease: Idiopathic chronic pancreatitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser) variant (also known as rs17107315:T>C) represents the most important heritable risk factor for idiopathic chronic pancreatitis identified to date. 28556356 2017
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE PRSS1 (R122H) mutations were detected in one (1.3%) patient with ICP and SPINK1 (N34S) mutations were present in one (4.1%) patient with ACP. 29641165 2017
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE The haplotype harboring the SPINK1 c.101A>G (p.Asn34Ser) variant (also known as rs17107315:T>C) represents the most important heritable risk factor for idiopathic chronic pancreatitis identified to date. 28556356 2017
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE Furthermore, the N34S polymorphism is rarely found in patients with severe idiopathic chronic pancreatitis. 14688470 2004
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE Research has focussed on the SPINK1-N34S-mutation, which is closely associated with tropical, alcoholic, or "idiopathic" chronic pancreatitis. 15567996 2004
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. 14641934 2003
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
0.060 GeneticVariation BEFREE The prevalence of the N34S mutation was increased in patients with ICP and was greatest in f-ICP cases. 11950815 2002