| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | BEFREE | Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease. | 26100556 | 2015 |
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|
0.080 | GeneticVariation | BEFREE | Six children with severe acute pancreatitis had SPINK1 N34S mutations (25%, p<0.05), and 4 were homozygous. | 25981744 | 2015 |
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|
0.080 | GeneticVariation | BEFREE | The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP in the Indian population, irrespective of disease etiology and whether the disease was recurrent or not, and was associated with disease onset at an earlier age. | 24844923 | 2014 |
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|
0.080 | GeneticVariation | BEFREE | The SPINK1 variant p.N34S is overrepresented in patients with acute pancreatitis, but more studies distinguishing between first-time and recurrent acute pancreatitis have to be done to determine whether this is only true for patients with recurrent acute pancreatitis. | 22228370 | 2012 |
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|
0.080 | GeneticVariation | BEFREE | Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with controls, suggesting that the SPINK1 N34S mutation represents an etiologic risk factor for AP in our Mexican pediatric patients. | 22699143 | 2012 |
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|
0.080 | GeneticVariation | BEFREE | The SPINK1 N34S polymorphism was not associated with the sentinel AP attack, but it substantially increases the risk of recurrent attacks. | 19888199 | 2010 |
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|
0.080 | GeneticVariation | BEFREE | The SPINK1 N34S variant is associated with acute pancreatitis. | 18617776 | 2008 |
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|
0.080 | GeneticVariation | BEFREE | SPINK1 N34S mutation enhances the susceptibility of AP. | 15782101 | 2005 |