rs145878042

This variant is located in the RAPGEF3 gene.

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GWAS Catalog Trait Associations (16)

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

BMI-adjusted waist-hip ratio

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 0.12
p 5.0e-18
N 219,872
Major Consortium StudyLarge 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 0.08
p 8.0e-17
N 379,501
Meta-analysisLarge GWAS
European
Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)
Allele G
OR 0.08
p 7.0e-17
N 344,369
Large GWAS
multi-ancestry

brother of CDO measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.21
p 4.0e-16
N 47,745
Large GWAS
European

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 0.05
p 9.0e-16
N 1,122,049
Large GWAS
European
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele G
OR 0.07
p 2.0e-15
N 526,508
Large GWAS
multi-ancestry

platelet component distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.08
p 2.0e-14
N 408,112
Large GWAS
European

thyroglobulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.20
p 2.0e-14
N 47,745
Large GWAS
European

body height

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 A
OR 0.04
p 3.0e-13
N 405,540
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 5.0e-13
N 394,642
Large GWAS
European

kallikrein-7 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.18
p 2.0e-12
N 47,745
Large GWAS
European

gdnf family receptor alpha-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.16
p 5.0e-12
N 47,745
Large GWAS
European

Abnormality of the skeletal system

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-11
N 394,642
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About RAPGEF3

Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including Rap protein signal transduction; cellular response to cAMP; and regulation of syncytium formation by plasma membrane fusion. Located in several cellular components, including filopodium; lamellipodium; and microvillus. Implicated in nicotine dependence. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Jul 2025]

View all RAPGEF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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