rs7725052

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (3)

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

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)

Allele T

OR 1.04

p 2.0e-14

N 346,545

Major Consortium StudyLarge GWAS

European

hemoglobin measurement

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 0.01

p 6.0e-11

N 502,921

Large GWAS

multi-ancestry

autoimmune thyroid disease, systemic lupus erythematosus, type 1 diabetes mellitus, ankylosing spondylitis, psoriasis, common variable immunodeficiency, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, juvenile idiopathic arthritis

Li YR et al. “Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.” Nature Medicine 21(9):1018-27 (2015)

Allele C

OR —

p 8.0e-11

N 16,754

Meta-analysisLarge GWAS

European

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Research that mentions this SNP (1)

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Epigenetic and genetic variation in GATA5 is associated with gastric disease risk

AssociationN=289Sobota RS et al.(2016)· Human Genetics

A discovery and replication study of 130 and 159 Colombian patients examining genetic and epigenetic variation in GATA5 associated with gastric disease progression. Two synonymous SNPs in GATA5 (rs6061243 and rs6587239) were significantly associated with histopathology scores in dominant-effect models (p = 2.63×10⁻⁷ and 7.97×10⁻⁷, respectively, β = -0.86 and -0.82) and replicated in additive/dominant models. GATA5 promoter methylation was independently associated with disease progression (p = 0.001), and a significant SNP-by-methylation interaction indicated non-linear combined effects on gastric lesion severity.

Traits studied:Atrophic gastritisDysplasiaGastric cancerGastric disease progressionGastritisIntestinal metaplasia

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.