rs7647305

This is a intron variant variant.

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GWAS Catalog Trait Associations (6)

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

body mass index

Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele C
OR —
β 0.036
p 7.0e-31
N 334,487
Large GWAS
multi-ancestry
Gong J et al. “Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.” International Journal of Obesity (2005) 42(3):384-390 (2018)
Allele C
OR 0.01
p 7.0e-9
N 102,514
Large GWAS
multi-ancestry
Thorleifsson G et al. “Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.” Nature Genetics 41(1):18-24 (2009)
Allele C
OR 4.42
p 7.0e-11
N 73,758
Large GWAS
multi-ancestry

physical activity measurement, body mass index

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 C
OR 0.04
p 3.0e-17
N 161,368
Meta-analysisLarge GWAS
multi-ancestry

fat pad mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 6.0e-13
N 394,642
Large GWAS
European

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 T
OR 0.01
p 8.0e-12
N 697,734
Meta-analysisLarge GWAS
European

diet measurement

Cole JB et al. “Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.” Nature Communications 11(1):1467 (2020)
Allele T
OR 0.02
p 4.0e-10
N 447,401
Major Consortium StudyLarge GWAS
European

body weight

Thorleifsson G et al. “Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.” Nature Genetics 41(1):18-24 (2009)
Allele C
OR 4.00
p 4.0e-9
N 73,758
Large GWAS
multi-ancestry
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Research that mentions this SNP (4)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations
AssociationN=14,000Sébastien Robiou-du-Pont et al.(2013)· Journal of Molecular Medicine

Genome-wide association study examining common variants near BDNF (rs6265, rs925946) and SH2B1 (rs7498665) in relation to snacking behavior across three European cohorts (French obese children, Swiss obese, D.E.S.I.R.). The study reports nominal evidence of association, with rs925946 in BDNF showing OR=1.21 (p=5.03×10⁻³) in the D.E.S.I.R. cohort and rs7498665 in SH2B1 showing OR=1.17 (p=9.57×10⁻³) in the Swiss cohort.

Traits studied:ObesitySnacking behavior
PubMedDOIMetascience Observatory
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Association of genetic variants for susceptibility to obesity with type 2 diabetes in Japanese individuals
AssociationN=18,264Takeuchi F. et al.(2011)· Diabetologia

Replication study of 14 obesity-associated SNPs from 13 loci in 18,264 Japanese participants, confirming associations at 11 loci including TMEM18 (rs4854344, p=7.1×10⁻⁷ for BMI), FTO, MC4R, BDNF, and others. Six obesity variants also associated with type 2 diabetes after BMI adjustment (OR 1.05-1.17), with FTO showing strong meta-analyzed association in East Asians (OR 1.13, p=7.8×10⁻¹⁰).

Traits studied:Body Mass Index (BMI)ObesityType 2 DiabetesWaist-to-Hip RatioWeight
PubMedDOIMetascience Observatory
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Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
AssociationSoutham L et al.(2009)· Diabetologia

This study tests the thrifty genotype hypothesis by examining 17 confirmed type 2 diabetes susceptibility loci and 13 obesity-susceptibility loci for signatures of positive selection. Using ancestral/derived allele analysis, integrated haplotype scores (iHS), and population differentiation (FST), the authors found limited evidence supporting the thrifty genotype hypothesis. Only rs7901695 at TCF7L2 showed notably elevated FST values (0.579 between JPT+CHB and YRI populations), and FTO showed the strongest selection signal among obesity loci (iHS=1.991).

Traits studied:Body mass index (BMI)ObesityType 2 diabetes
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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