rs148911734

This is a intergenic variant variant in the SPINK1 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chronic pancreatitis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.78
p 2.0e-17
N 629,889
Major Consortium StudyLarge GWAS
multi-ancestry

pancreas disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.39
p 2.0e-12
N 623,143
Major Consortium StudyLarge GWAS
multi-ancestry

pancreatitis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.76
p 1.0e-13
N 658,200
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Identification of a functional enhancer variant within the chronic pancreatitis‐associatedSPINK1c.101A&gt;G (p.Asn34Ser)‐containing haplotype
FunctionalN=638Arnaud Boulling et al.(2017)· Human Mutation

This functional study investigated the pathogenic mechanism of the SPINK1 p.N34S (rs17107315) risk haplotype for chronic pancreatitis (CP) in a sample of 638 Swiss individuals. Haplotype analysis revealed that the CAT haplotype (containing rs17107315, rs142703147, and rs148911734) was significantly associated with CP status (p=9.21e-14 for the C/A/T haplotype). Through affinity chromatography, proteomics, and electrophoretic mobility shift assays, rs148911734 was identified as a potential pathological variant affecting transcription factor binding, particularly for GATA6 and YY1, with differential binding patterns at the risk versus non-risk allele.

Traits studied:Chronic pancreatitisIdiopathic chronic pancreatitis
PubMedDOIMetascience Observatory

About SPINK1

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]

View all SPINK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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