Variant: rs104893939 

    present in Gene: SPINK1
    present in Chromosome: 5
    Position on Chromosome: 147831537
    Alleles of this Variant: A/C;G

rs104893939 in SPINK1 gene and Hereditary pancreatitis PMID 10835640 2000 Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

PMID 10691414 2000 Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

PMID 18617776 2008 The SPINK1 N34S variant is associated with acute pancreatitis.

PMID 12974284 2003 Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

PMID 19888199 2010 SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.