PRSS3, serine protease 3, 5646

N. diseases: 59; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1971430
rs1971430
Entrez Id: 5646;101929665
Gene Symbol: PRSS3;UBE2R2-AS1
PRSS3;UBE2R2-AS1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3843935
rs3843935
Entrez Id: 5646;101929665
Gene Symbol: PRSS3;UBE2R2-AS1
PRSS3;UBE2R2-AS1
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs139635080
rs139635080
Entrez Id: 5646;101929665
Gene Symbol: PRSS3;UBE2R2-AS1
PRSS3;UBE2R2-AS1
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407 2011
dbSNP: rs146966861
rs146966861
Entrez Id: 5646;101929665
Gene Symbol: PRSS3;UBE2R2-AS1
PRSS3;UBE2R2-AS1
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and healthy controls were genotyped for the p.R122H mutation in the PRSS1 gene, p.N34S and IVS3 + 2T > C variants in the SPINK1 gene, the p.G191R variant in the anionic trypsinogen gene, the p.E32del variant in the mesotrypsinogen (PRSS3) gene, and the -2518G > A variant in the monocyte chemoattractant protein-1 gene by polymerase chain reaction-restriction enzyme digestion and direct sequencing. 21303407 2011
dbSNP: rs142022985
rs142022985
Entrez Id: 5646;101929665
Gene Symbol: PRSS3;UBE2R2-AS1
PRSS3;UBE2R2-AS1
CUI: C0149521
Disease:
Pancreatitis, Chronic
0.010 GeneticVariation BEFREE Extended analysis of the p.T167A variant revealed no association to CP and in functional assays p.T167A showed normal secretion and activity. 20484962 2010