rs4788084

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (2)

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

alcohol consumption quality

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 4.0e-32
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified
Brazel DM et al. “Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.” Biological Psychiatry 85(11):946-955 (2019)
Allele T
OR 0.01
p 2.0e-8
N 357,854
Meta-analysisLarge GWAS
European

type 1 diabetes mellitus

Barrett JC et al. “Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.” Nature Genetics 41(6):703-707 (2009)
Allele G
OR 1.09
p 3.0e-13
N 16,559
Meta-analysisLarge GWAS
European
Plagnol V et al. “Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.” Plos Genetics 7(8):e1002216 (2011)
Allele G
OR 1.15
p 1.0e-8
N 19,102
Large GWAS
European
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Research that mentions this SNP (2)

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Identification of candidate loci at 6p21 and 21q22 in a genome‐wide association study of cardiac manifestations of neonatal lupus
AssociationN=3,467Robert M. Clancy et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

Traits studied:Atrioventricular blockCardiac neonatal lupusCardiomyopathyCongenital heart blockNeonatal lupus erythematosus
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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