rs7138803

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (13)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.03

p 4.0e-90

N 1,122,049

Large GWAS

European

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 G

OR 0.03

p 3.0e-71

N 806,834

Meta-analysisLarge GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele G

OR 0.03

p 1.0e-65

N 694,649

Large GWAS

European

Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)

Allele G

OR 0.03

p 5.0e-71

N 650,000

Large GWAS

European

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 G

OR —

β 0.027

p 6.0e-27

N 334,487

Large GWAS

multi-ancestry

Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)

Allele G

OR —

β 0.033

p 2.0e-31

N 309,889

Large GWAS

European

Locke AE et al. “Genetic studies of body mass index yield new insights for obesity biology.” Nature 518(7538):197-206 (2015)

Allele G

OR 0.04

p 2.0e-17

N 238,944

Large GWAS

multi-ancestry

Akiyama M et al. “Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.” Nature Genetics 49(10):1458-1467 (2017)

Allele G

OR 0.02

p 2.0e-21

N 158,284

Large GWAS

multi-ancestry

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 G

OR 0.03

p 4.0e-11

N 153,041

Meta-analysisLarge GWAS

multi-ancestry

Speliotes EK et al. “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.” Nature Genetics 42(11):937-48 (2010)

Allele G

OR 0.12

p 2.0e-17

N 123,865

Large GWAS

European

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 G

OR 0.03

p 2.0e-11

N 123,097

Meta-analysisLarge GWAS

multi-ancestry

Wood AR et al. “Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively.” Diabetologia 59(6):1214-21 (2016)

Allele G

OR 0.03

p 2.0e-15

N 119,688

Large GWAS

European

Zhang X et al. “Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.” Nature Communications 16(1):3470 (2025)

Allele G

OR 0.04

p 2.0e-11

N 88,873

Large GWAS

multi-ancestry

Downie CG et al. “Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects.” Hgg Advances 6(2):100411 (2025)

Allele G

OR 0.06

p 2.0e-22

N 84,840

Large GWAS

multi-ancestry

Vogelezang S et al. “Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.” Plos Genetics 16(10):e1008718 (2020)

Allele G

OR 0.07

p 7.0e-20

N 39,620

Large GWAS

European

Felix JF et al. “Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.” Human Molecular Genetics 25(2):389-403 (2016)

Allele G

OR —

p 5.0e-18

N 34,744

Large GWAS

European

Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)

Allele G

OR 1.13

p 2.0e-9

N 16,068

Meta-analysisLarge GWAS

European

obesity

Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)

Allele A

OR 1.09

p 1.0e-20

N 204,498

Meta-analysisLarge GWAS

European

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 A

OR 0.03

p 5.0e-16

N 161,368

Meta-analysisLarge GWAS

multi-ancestry

hip circumference

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 2.0e-15

N 143,480

Large 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 0.01

p 1.0e-12

N 316,772

Meta-analysisLarge GWAS

European

age at menarche

Perry JR et al. “Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.” Nature 514(7520):92-97 (2014)

Allele G

OR 0.04

p 2.0e-12

N 182,413

Large GWAS

European

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele A

OR 0.02

p 8.0e-12

N 355,752

Major Consortium StudyLarge GWAS

multi-ancestry

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)

Allele G

OR 0.03

p 3.0e-11

N 122,644

Large GWAS

European

high density lipoprotein cholesterol measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele A

OR 0.02

p 4.0e-9

N 361,194

Large GWAS

European

C-reactive protein measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele A

OR 0.01

p 2.0e-8

N 575,531

Large GWAS

European

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ClinVar annotation

Risk Factor

1 submitter1 publication

Obesity

View on ClinVar →

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Research that mentions this SNP (6)

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Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight

ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes

PubMed DOI Metascience Observatory

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Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes

AssociationN=949Mathias Rask-Andersen et al.(2015)· Molecular Genetics and Genomics

Association study of 35 GWAS-identified body mass SNPs in 949 elderly Swedish participants (mean age 70-75 years). Significant association found between rs10968576 (LINGO2, intron 4) and BMI with a larger effect size (β = 0.69 kg/m²) than reported in younger populations, suggesting age-specific genetic effects on body mass in the elderly.

Traits studied:Body Mass IndexBody adiposityObesityOverweight

PubMed DOI Metascience Observatory

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Common obesity risk alleles in childhood attention‐deficit/hyperactivity disorder

AssociationN=4,415Özgür Albayrak et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined whether 32 obesity-associated genetic risk alleles are associated with childhood ADHD in a German GWAS sample (495 cases, 1,300 controls) and a meta-analysis (2,064 trios, 896 cases, 2,455 controls). The obesity risk allele G at rs206936 in NUDT3 was associated with increased ADHD risk (OR=1.39, P=3.4×10⁻⁴), and rs6497416 in GPRC5B showed association with ADHD in the meta-analysis (P=7.2×10⁻⁴). Several obesity-related SNPs were associated with ADHD endophenotypes including inattention and hyperactivity/impulsivity.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Body mass index (BMI)Hyperactivity/impulsivityInattentionObesity

PubMed DOI Metascience Observatory

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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

PubMed DOI Metascience 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

PubMed DOI Metascience 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

PubMed DOI Metascience Observatory

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

rs7138803

GWAS Catalog Trait Associations (13)

body mass index

obesity

physical activity measurement, body mass index

hip circumference

waist-hip ratio

age at menarche

cystatin C measurement

non-alcoholic fatty liver disease

high density lipoprotein cholesterol measurement

C-reactive protein measurement

ClinVar annotation

Research that mentions this SNP (6)

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