PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 17568390 2007
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. 19454815 2009
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 8841182 1996