Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Loss of Arg(117)-dependent trypsin inhibition can contribute to the development of hereditary pancreatitis associated with the Arg(117) --> His mutation. 11748242

2002
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE The findings support the notion that enhanced trypsinogen activation in the pancreas is the common initiating step in hereditary pancreatitis, whereas trypsin stabilization plays a role in cases associated with the Arg117-->His mutation. 12120225

2001
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient. 11138965

2001
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene have been clearly associated with HP. 10909845

2000
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Recently, an Arg to His mutation at residue 117 of the cationic trypsinogen gene (Arg117His) has been shown to be associated with hereditary pancreatitis (hp). 11062709

2000
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE The findings strongly argue that increased trypsinogen activation in the pancreas is the common initiating step in both forms of HP, whereas trypsin stabilization might also contribute to HP associated with the Arg117 --> His mutation. 11097832

2000
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Hereditary pancreatitis has been shown to be caused by one of two mutations (R117H and N21I) of the cationic trypsinogen gene (PRSS1). 10671922

2000
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. 10653140

2000
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Two types of single-point mutation in the cationic trypsinogen gene, which were identical with those reported in white families with hereditary pancreatitis, were observed in separate Japanese families with hereditary pancreatitis: 21Asn (AAC) to Ile (ATC) (N21I) in exon 2 and 117Arg (CGC) to His (CAC) (R117H) in exon 3. 9895387

1999
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine substitution at residue 117 in the trypsinogen cationic gene (try4) has been shown to segregate with the HP phenotype. 10204851

1999
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Mutations Arg(117) --> His and Asn(21) --> Ile in human trypsinogen-I have been recently associated with hereditary pancreatitis (HP). 10514442

1999
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE R117H was detected in four families with hereditary pancreatitis. 10026330

1999
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis? 10529393

1999
dbSNP: rs199769221
rs199769221
PRSS1
0.800 GeneticVariation BEFREE Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied with HP. 9557894

1998
dbSNP: rs199769221
rs199769221
PRSS1
C 0.800 GeneticVariation CLINVAR