rs3130544

This is a intergenic variant variant.

▶

GWAS Catalog Trait Associations (4)

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

immune system disease

Peter K. Gregersen et al. “Risk for myasthenia gravis maps to a <sup>151</sup> Pro→Ala change in TNIP1 and to human leukocyte antigen‐B*08” Annals of Neurology (2012)

Allele A

OR 5.64

p 2.0e-90

N 5,905

Large GWAS

European

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)

Allele A

OR 3.34

p 9.0e-58

N 2,894

Large GWAS

European

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele A

OR 0.40

p 3.0e-22

N 2,721

Large GWAS

European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele C

OR 1.09

p 1.0e-8

N 275,546

Major Consortium StudyLarge GWAS

European

▶

Research that mentions this SNP (1)

▶

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 & 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

PubMed DOI Metascience Observatory

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

rs3130544

GWAS Catalog Trait Associations (4)

immune system disease

membranous glomerulonephritis

protein measurement

Inguinal hernia

Research that mentions this SNP (1)

Community Wiki

Comments