rs2322659

This is a variant in the LCT gene that changes a asparagine to an serine.

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GWAS Catalog Trait Associations (1)

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

vital capacity

Jackson VE et al. “Meta-analysis of exome array data identifies six novel genetic loci for lung function.” Wellcome Open Research 3:4 (2018)

Allele T

OR 6.02

p 2.0e-9

N 68,470

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

Congenital lactase deficiency; Lactose intolerance; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Polymorphism in the protease‐activated receptor‐4 gene region associates with platelet activation and perioperative myocardial injury

AssociationN=934Jochen D. Muehlschlegel et al.(2012)· American Journal of Hematology

A genetic association study identified SNP rs773857 in the F2RL3 gene region as associated with perioperative myocardial injury (PMI) in 934 CABG surgery patients (OR 2.4, p=0.004). Risk allele homozygotes showed increased platelet counts and enhanced P-selectin release upon PAR4 activation, indicating increased platelet reactivity and α-granule degranulation.

Traits studied:Perioperative myocardial injuryPlatelet activationPlatelet count

PubMed DOI Metascience Observatory

About LCT

The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]