Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 GeneticVariation UNIPROT SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. 19888199

2010
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 GeneticVariation UNIPROT The SPINK1 N34S variant is associated with acute pancreatitis. 18617776

2008
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 GeneticVariation UNIPROT Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis. 12974284

2003
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 GeneticVariation UNIPROT Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 10691414

2000
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 GeneticVariation UNIPROT Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640

2000
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.750 GeneticVariation UNIPROT SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. 12187509

2002
dbSNP: rs17107315
rs17107315
SPINK1
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.750 GeneticVariation UNIPROT Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. 12011155

2002