Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033565
rs111033565
PRSS1
0.020 GeneticVariation BEFREE Autosomal dominant hereditary pancreatitis has been conclusively linked with cationic trypsinogen (PRSS1) mutations p.R122H and p.N29I, which can be found in approximately 90% of mutation-positive cases. 20452997

2010
dbSNP: rs111033566
rs111033566
PRSS1
0.020 GeneticVariation BEFREE Autosomal dominant hereditary pancreatitis has been conclusively linked with cationic trypsinogen (PRSS1) mutations p.R122H and p.N29I, which can be found in approximately 90% of mutation-positive cases. 20452997

2010
dbSNP: rs267606982
rs267606982
PRSS1
0.020 GeneticVariation BEFREE Autosomal dominant hereditary pancreatitis has been conclusively linked with cationic trypsinogen (PRSS1) mutations p.R122H and p.N29I, which can be found in approximately 90% of mutation-positive cases. 20452997

2010
dbSNP: rs111033565
rs111033565
PRSS1
0.020 GeneticVariation BEFREE Two subjects from HP families (including a 93 year old subject with PRSS1 R122H without pancreatitis), one with chronic pancreatitis and one with a normal pancreas, were studied. 16354799

2006
dbSNP: rs267606982
rs267606982
PRSS1
0.020 GeneticVariation BEFREE Two subjects from HP families (including a 93 year old subject with PRSS1 R122H without pancreatitis), one with chronic pancreatitis and one with a normal pancreas, were studied. 16354799

2006
dbSNP: rs111033566
rs111033566
PRSS1
0.020 GeneticVariation BEFREE Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572

2002
dbSNP: rs387906698
rs387906698
PRSS1
0.010 GeneticVariation BEFREE We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. 19191323

2009
dbSNP: rs104893939
rs104893939
SPINK1
0.010 GeneticVariation BEFREE The disease-associated c.41T>G (p.L14R) alteration was found in two European families with autosomal dominant hereditary pancreatitis, whereas the c.36G>C (p.L12F) variant was identified as a frequent alteration in subjects of African descent. 17274009

2007
dbSNP: rs111033568
rs111033568
PRSS1
0.010 GeneticVariation BEFREE Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572

2002