rs2412973

This is a downstream gene variant variant in the HORMAD2 gene.

▶

GWAS Catalog Trait Associations (11)

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

C-C motif chemokine 21 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 3.0e-32
N 47,745
Large GWAS
European

C-X-C motif chemokine 13 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 1.0e-23
N 47,745
Large GWAS
European

SLAM family member 7 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-20
N 47,745
Large GWAS
European

alcohol consumption quality

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 2.0e-14
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

Fc receptor-like protein 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 2.0e-13
N 47,745
Large GWAS
European

thyroid disease, drug use measurement

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 0.07
p 2.0e-13
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

C-C motif chemokine 19 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 5.0e-13
N 47,745
Large GWAS
European

level of complement receptor type 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 2.0e-11
N 47,745
Large GWAS
European

cup-to-disc ratio measurement

Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele A
OR 0.01
p 2.0e-9
N 25,180
Large GWAS
European
▶

Research that mentions this SNP (3)

▶
Associations Between Genetic Variants in the IRGM Gene and Inflammatory Bowel Diseases in the Korean Population
AssociationN=400Chang Mo Moon et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis by Paul Henderson comprises multiple studies on paediatric inflammatory bowel disease (PIBD) in Scotland, including epidemiological studies documenting a 76% rise in IBD incidence, genetic association studies identifying ICOSLG SNP rs8126734-A as overtransmitted in IBD/CD (p=0.0467, OR 1.85 for CD; p=0.0084), CRP gene variants rs1130864-A and rs1417938-A associated with PIBD susceptibility (OR 1.56-1.89 for CD), and functional characterization of NOD2 and autophagy pathways in Crohn's disease pathogenesis.

Traits studied:Colonic IBD unclassifiedCrohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
▶
Phenotype–Genotype Profiles in Crohnʼs Disease Predicted by Genetic Markers in Autophagy-Related Genes (GOIA Study II)
AssociationN=448Cecília Durães et al.(2013)· Inflammatory Bowel Diseases

This PhD thesis encompasses multiple studies on pediatric inflammatory bowel disease (IBD): epidemiological analysis shows rising incidence in Scotland (4.45 to 7.82 per 100,000 per year); transmission disequilibrium testing identified rs8126734-A as overtransmitted in IBD and CD (OR 1.48, p=0.047; OR 1.85 for CD, p=0.008); genome-wide association meta-analysis confirmed strong signals in ICOSLG 3'UTR for CD susceptibility; CRP gene variants (rs1417938, rs1130864) showed significant overtransmission (p=0.006, p=0.015); and faecal calprotectin demonstrated superior diagnostic accuracy for PIBD detection (sensitivity 0.93, specificity 0.74).

Traits studied:Crohn's diseaseInflammatory bowel diseasePediatric inflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory
▶
Association between genome-wide association studies reported SNPs and pediatric-onset Crohn’s disease in Canadian children
AssociationN=1,116Devendra K. Amre et al.(2010)· Human Genetics

This case-control study of 563 Canadian children with pediatric-onset Crohn's disease and 553 controls confirmed associations between SNPs at two novel pediatric-specific loci (rs1250550 at 10q22.3, p=0.026; rs8049439 at 16p11.2, p=0.04) and disease susceptibility. Additionally, 6 of 16 previously reported adult CD loci were significantly associated with pediatric CD, demonstrating substantial genetic overlap between disease forms.

Traits studied:Crohn's diseaseInflammatory bowel disease
PubMedDOIMetascience Observatory

About HORMAD2

Predicted to be involved in meiotic cell cycle and meiotic sister chromatid cohesion. Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all HORMAD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…