rs571312

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GWAS Catalog Trait Associations (8)

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 C
OR 0.05
p 2.0e-213
N 1,122,049
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 C
OR 0.04
p 9.0e-95
N 650,000
Large GWAS
European
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 C
OR 0.23
p 6.0e-42
N 123,865
Large GWAS
European
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 C
OR 0.06
p 2.0e-10
N 39,620
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 C
OR 0.06
p 4.0e-12
N 38,595
Meta-analysisLarge GWAS
multi-ancestry
Warrington NM et al. “A genome-wide association study of body mass index across early life and childhood.” International Journal of Epidemiology 44(2):700-12 (2015)
Allele C
OR —
p 4.0e-9
N 9,377
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.03
p 3.0e-24
N 472,730
Large GWAS
East Asian

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 5.0e-21
N 405,979
Large GWAS
European

longitudinal BMI measurement

Warrington NM et al. “A genome-wide association study of body mass index across early life and childhood.” International Journal of Epidemiology 44(2):700-12 (2015)
Allele A
OR —
p 5.0e-9
N 9,377
Large GWAS
European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele A
OR 0.02
p 4.0e-11
N 406,504
Large 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 0.07
p 7.0e-22
N 161,368
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (5)

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Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;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
PubMedDOIMetascience 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
PubMedDOIMetascience Observatory
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Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children
AssociationN=7,081Yunhua L. Muller et al.(2014)· Human Genetics

This study investigated common genetic variation in the MC4R gene region in American Indians (n=7,081) and found that rs74861148 and rs483145 were independently associated with increased BMI in adults (β=0.68 kg/m² and β=0.58 kg/m², respectively), with a combined G-A haplotype showing the strongest association (β=0.89 kg/m², p=5.5×10⁻⁷). Additionally, the promoter SNP rs11872992 was nominally associated with BMI and showed a 12% reduction in MC4R promoter activity in vitro, and was associated with increased food intake (β=676 kcal/day, p=0.007) and decreased energy expenditure (β=-53.4 kcal/day, p=0.054).

Traits studied:Body mass indexEnergy expenditureFood intakeObesityPercent body fatType 2 diabetes
PubMedDOIMetascience 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
PubMedDOIMetascience 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
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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