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: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. 24780743 2015
dbSNP: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 23455445 2014
dbSNP: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient. 24413785 2014
dbSNP: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan. 23686146 2014
dbSNP: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. 21415673 2011
dbSNP: rs189270875
rs189270875
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		C 0.700 CausalMutation CLINVAR Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. 17003641 2006