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PRSS1

From SNPedia
is agene
is mentioned by
ClinVarPRSS1
GeneCardsPRSS1
DiseasesPRSS1
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EVSPRSS1
HEFalMpPRSS1
MyGene2PRSS1
23andMePRSS1
# SNPs23
 Max MagnitudeChromosome positionSummary
i5005348
i5005351
i5005352
rs10273639142,749,077
rs1110335644.4142,751,808
rs1110335654.4142,751,938
rs1110335662142,750,600
rs1110335674.4142,750,582
rs1110335684.4142,751,937
rs1444220142142,750,675
rs1939226550142,751,962
rs1939226560142,751,971
rs1997692210142,751,920
rs2020038054.4142,750,561
rs2676069820142,751,938
rs289349020142,751,808
rs3879066984.4142,751,919
rs3975074394.4142,750,630
rs3975074404.4142,751,988
rs3975074414.4142,750,585
rs3975074424.4142,750,579
rs6062313450142,751,920
rs779140570142,751,938

The PRSS1 gene on chromosome 7 encodes "protease, serine 1", also known as cationic trypsinogen. Cationic trypsinogen is produced in the pancreas and helps with the digestion of food.GHR

Mutations in the PRSS1 gene have primarly been linked to a dominantly inherited form of hereditary pancreatitis. More than 40 mutations in the PRSS1 gene are considered pathogenic for this condition; the most common in early-onset (pediatric) acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) has been reported to be R122H (rs111033565).10.1016/j.jpeds.2017.03.063