PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Acute pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223231582
rs1223231582
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0001339
Disease:
Acute pancreatitis 		0.020 GeneticVariation BEFREE Six children with severe acute pancreatitis had SPINK1 N34S mutations (25%, p<0.05), and 4 were homozygous. 25981744 2015
dbSNP: rs1223231582
rs1223231582
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0001339
Disease:
Acute pancreatitis 		0.020 GeneticVariation BEFREE Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with controls, suggesting that the SPINK1 N34S mutation represents an etiologic risk factor for AP in our Mexican pediatric patients. 22699143 2012