rs56062135

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GWAS Catalog Trait Associations (14)

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

eosinophil count

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 0.05
p 3.0e-45
N 335,542
Major Consortium StudyLarge GWAS
European

childhood onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 1.19
p 3.0e-26
N 327,670
Large GWAS
European

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele T
OR 0.94
p 2.0e-22
N 1,165,690
Large GWAS
European, NR
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 5.0e-10
N 640,258
Large GWAS
European, East Asian
Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)
Allele T
OR 1.08
p 5.0e-13
N 392,241
Meta-analysisLarge GWAS
multi-ancestry
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 T
OR 0.06
p 4.0e-14
N 315,668
Major Consortium StudyLarge GWAS
European
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.07
p 4.0e-17
N 250,736
Large GWAS
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele T
OR 1.07
p 5.0e-9
N 187,599
Meta-analysisLarge GWAS
multi-ancestry

asthma, endometriosis

Adewuyi EO et al. “Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.” Human Reproduction (oxford, England) 37(2):366-383 (2022)
Allele T
OR —
β 0.090
p 7.0e-22
N 610,749
Large GWAS
European, East Asian

asthma

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 0.10
p 5.0e-20
N 315,668
Major Consortium StudyLarge GWAS
European

coronary atherosclerosis

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 0.06
p 2.0e-19
N 602,192
Major Consortium StudyLarge GWAS
multi-ancestry

drug use measurement, coronary artery disease

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 0.06
p 5.0e-13
N 315,668
Major Consortium StudyLarge GWAS
European

myocardial infarction

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 0.06
p 2.0e-12
N 315,668
Major Consortium StudyLarge GWAS
European

adult onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele T
OR 1.08
p 6.0e-12
N 339,801
Large GWAS
European

eosinophilic esophagitis

Chang X et al. “A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci.” The Journal of Allergy and Clinical Immunology 149(3):988-998 (2022)
Allele T
OR 1.29
p 4.0e-10
N 15,564
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population
AssociationN=3,000Xiang-Ting Li et al.(2015)· Pediatric Cardiology

This association study examined 141 tag SNPs in 8 transforming growth factor-beta (TGFβ) signaling pathway genes (SMAD2, SMAD3, SMAD4, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2) in 3,000 Taiwanese subjects (2,467 without metabolic syndrome, 533 with) to assess associations with metabolic syndrome (MetS). The study found significant associations with SMAD2 rs11082639 (OR=1.66, 95% CI=1.32-2.08, P=1.4×10⁻⁵ in additive model) and TGFBR2 rs3773651 (OR=1.50, 95% CI=1.04-2.15, P=0.0285 in additive model), which remained significant after Bonferroni correction. SMAD2 rs11082639 was specifically associated with high waist circumference. Gene-gene interaction analysis revealed a significant interaction between SMAD2 and TGFBR2 variants influencing MetS risk.

Traits studied:blood pressurefasting glucosehigh-density lipoprotein cholesterolmetabolic syndrometriglyceridewaist circumference
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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