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SNP information rs17107315

RS17107315

Normal allele: TT

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1), are strongly associated with pancreatitis.

Polymorphism rs17107315 is related to topics like this:

Hereditary pancreatitis

Pancreatitis is a multifaceted ailment that can stem from various sources. If pancreatitis arises...

Research and publications:

  17204   Characterization of longstanding specific unresponsiveness in adult recipients of strongly histoincompatible hemopoietic stem cells.

  10691414   Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

  10835640   Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

  12011155   Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

  12187509   SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

  12483248   Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

  16885867   Estimation of the prevalence and incidence of chronic pancreatitis and its complications.

  18286680   Role of genetic disorders in acute recurrent pancreatitis.

  19453252   Chronic pancreatitis: genetics and pathogenesis.

  20556870   CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies

  27535533   Analysis of protein-coding genetic variation in 60,706 humans.

  28556356   Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

  32695137   Workflow for the Implementation of Precision Genomics in Healthcare.

  34828289   Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.

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