rs2234458

This variant is located in the EFEMP2 gene.

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GWAS Catalog Trait Associations (4)

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

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 T
OR 0.02
p 3.0e-25
N 394,642
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 C
OR 0.02
p 1.0e-21
N 1,122,049
Large GWAS
European
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele C
OR 0.02
p 5.0e-21
N 441,761
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 C
OR 0.02
p 2.0e-17
N 394,642
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 3.0e-20
N 342,566
Large GWAS
European

body height

Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele C
OR 0.01
p 3.0e-19
N 453,169
Large GWAS
European

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 1.0e-10
N 337,196
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About EFEMP2

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

View all EFEMP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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