PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Idiopathic chronic pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033565
rs111033565
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 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
dbSNP: rs111033565
rs111033565
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 GeneticVariation BEFREE Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP. 11260229 2001
dbSNP: rs111033565
rs111033565
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis 		0.030 GeneticVariation BEFREE Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idiopathic' CP, whereas patients with 'hereditary' CP predominantly showed a PRSS1 mutation (R122H, N29I). 12120220 2001