PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033566
rs111033566
0.742 0.280 7 142750600 missense variant A/C;T snv
CUI: C0268417
Disease: Pancreatic trypsinogen deficiency
Pancreatic trypsinogen deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0