rs2294239

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GWAS Catalog Trait Associations (7)

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

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 4.0e-44
N 379,501
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele A
OR 0.03
p 5.0e-44
N 660,648
Large GWAS
European
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 5.0e-15
N 186,825
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 7.0e-10
N 143,480
Large GWAS
multi-ancestry
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele A
OR 0.03
p 2.0e-10
N 118,949
Meta-analysisLarge GWAS
multi-ancestry

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 3.0e-31
N 697,734
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele A
OR —
p 5.0e-8
N 663,598
Large GWAS
European

diastolic blood pressure

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 G
OR 0.01
p 2.0e-15
N 1,212,859
Large GWAS
European

BMI-adjusted waist-hip ratio, physical activity measurement

Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele A
OR 0.03
p 4.0e-14
N 156,653
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 3.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele G
OR 0.03
p 4.0e-9
N 143,480
Large GWAS
multi-ancestry

smoking behavior, BMI-adjusted waist-hip ratio

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.02
p 8.0e-9
N 191,661
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome‐wide association analysis of eating disorder‐related symptoms, behaviors, and personality traits
AssociationN=2,784Vesna Boraska et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genome-wide association study of six eating disorder-related phenotypes (Drive for Thinness, Body Dissatisfaction, Bulimia, Weight Fluctuation, Breakfast Skipping, and Childhood Obsessive-Compulsive traits) across 2,698-2,967 individuals from TwinsUK discovery and two independent European replication cohorts. Meta-analysis identified eight genetic variants with suggestive evidence of association (P < 10^-5), including rs7624327 near CCNL1 (P=3.34E-06, OR=1.13 for Bulimia), rs1898111 in SEMA6D (P=7.66E-06, OR=0.872 for OCPD), and rs6894268 in RUFY1 (P=2.38E-06 for Body Dissatisfaction), but no signals reached genome-wide significance threshold (P < 5×10^-8).

Traits studied:Body DissatisfactionBreakfast SkippingBulimiaChildhood Obsessive-Compulsive Personality Disorder traitDrive for ThinnessWeight Fluctuation
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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