PRSS2, serine protease 2, 5645

N. diseases: 66; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61734659
rs61734659
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C1842402
Disease:
TROPICAL CALCIFIC PANCREATITIS
0.010 GeneticVariation BEFREE G191R was detected in 1 TCP patient (0.6%) compared to 13 controls (1.6%; OR 0.27, 95% CI 0.03-2.1; p = 0.33). 19077465 2009
dbSNP: rs61734659
rs61734659
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030297
Disease:
Pancreatic Neoplasm
0.010 GeneticVariation BEFREE The heterozygous p.G191R variant was found in three of 241 (1.2%) patients with chronic pancreatitis, in seven of 174 (4.0%) patients with acute pancreatitis, and in 12 of 189 (6.3%) patients with pancreatic neoplasm. 19052022 2009
dbSNP: rs61734659
rs61734659
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0810032
Disease:
Pancreatic disorders (not diabetes)
0.010 GeneticVariation BEFREE A loss-of-function p.G191R variant in the anionic trypsinogen (PRSS2) gene in Japanese patients with pancreatic disorders. 19052022 2009
dbSNP: rs748405415
rs748405415
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C1842402
Disease:
TROPICAL CALCIFIC PANCREATITIS
0.010 GeneticVariation BEFREE G191R was detected in 1 TCP patient (0.6%) compared to 13 controls (1.6%; OR 0.27, 95% CI 0.03-2.1; p = 0.33). 19077465 2009
dbSNP: rs748405415
rs748405415
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030297
Disease:
Pancreatic Neoplasm
0.010 GeneticVariation BEFREE The heterozygous p.G191R variant was found in three of 241 (1.2%) patients with chronic pancreatitis, in seven of 174 (4.0%) patients with acute pancreatitis, and in 12 of 189 (6.3%) patients with pancreatic neoplasm. 19052022 2009
dbSNP: rs748405415
rs748405415
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0341471
Disease:
Idiopathic chronic pancreatitis
0.010 GeneticVariation BEFREE The p.G191R variant protected against alcoholic and idiopathic chronic pancreatitis as well as alcoholic acute pancreatitis in Japan. 19052022 2009
dbSNP: rs748405415
rs748405415
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0810032
Disease:
Pancreatic disorders (not diabetes)
0.010 GeneticVariation BEFREE A loss-of-function p.G191R variant in the anionic trypsinogen (PRSS2) gene in Japanese patients with pancreatic disorders. 19052022 2009
dbSNP: rs139232307
rs139232307
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Remarkably, however, E79K trypsin activated anionic trypsinogen two-fold better than wild-type cationic trypsin did, while the common pancreatitis-associated mutants R122H or N29I had no such effect. 14695529 2004
dbSNP: rs756271986
rs756271986
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Remarkably, however, E79K trypsin activated anionic trypsinogen two-fold better than wild-type cationic trypsin did, while the common pancreatitis-associated mutants R122H or N29I had no such effect. 14695529 2004
dbSNP: rs764176833
rs764176833
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Remarkably, however, E79K trypsin activated anionic trypsinogen two-fold better than wild-type cationic trypsin did, while the common pancreatitis-associated mutants R122H or N29I had no such effect. 14695529 2004