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: rs13228878
rs13228878
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE While rs62228256 was not validated as a risk factor (<i>P</i>=0.77), both rs13228878 (<i>P</i>=0.03) and rs10273639 (<i>P</i>=0.04) were. rs13228878 and rs10273639 are in high linkage disequilibrium (r<sup>2</sup>=0.94) and associated with elevated expression of the <i>PRSS1</i> gene, which encodes for trypsinogen, and are known risk variants for alcohol-associated and sporadic pancreatitis in adults. 30467200 2019
dbSNP: rs61734659
rs61734659
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Besides it suggests that protective genetic variants, i. e., p.G191R PRSS2, may contribute to the low prevalence of pancreatitis in pHPT patients. 20625975 2011
dbSNP: rs748405415
rs748405415
Entrez Id: 5645
Gene Symbol: PRSS2
PRSS2
CUI: C0030305
Disease:
Pancreatitis
0.010 GeneticVariation BEFREE Besides it suggests that protective genetic variants, i. e., p.G191R PRSS2, may contribute to the low prevalence of pancreatitis in pHPT patients. 20625975 2011
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