rs3791679

This variant is located in the EFEMP1 gene.

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GWAS Catalog Trait Associations (20)

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

EGF-containing fibulin-like extracellular matrix protein 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 0.18
p 4.0e-201
N 47,745
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele G
OR 0.26
p 6.0e-67
N 10,708
Large GWAS
European

Inguinal hernia

Choquet H et al. “Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.” Human Molecular Genetics 31(13):2279-2293 (2022)
Allele G
OR 0.82
p 3.0e-87
N 513,120
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.20
p 1.0e-46
N 623,807
Large GWAS
multi-ancestry
Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele G
OR 1.22
p 3.0e-45
N 275,546
Major Consortium StudyLarge GWAS
European
Guindo-Martínez M et al. “The impact of non-additive genetic associations on age-related complex diseases.” Nature Communications 12(1):2436 (2021)
Allele G
OR 0.84
p 7.0e-14
N 56,637
Large GWAS
European

Hernia of the abdominal wall

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.13
p 3.0e-81
N 416,370
Major Consortium StudyLarge GWAS
European

forced expiratory volume

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 0.03
p 7.0e-57
N 373,397
Large GWAS
European
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele A
OR 0.02
p 3.0e-13
N 321,047
Large GWAS
European

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 3.0e-37
N 928,679
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.04
p 6.0e-20
N 609,198
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 1.0e-22
N 525,535
Large GWAS
multi-ancestry

BMI-adjusted hip circumference

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 0.04
p 9.0e-29
N 186,825
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele G
OR 0.04
p 1.0e-20
N 143,480
Large GWAS
multi-ancestry

lean body 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 G
OR 0.02
p 1.0e-23
N 337,739
Large GWAS
European

carpal tunnel syndrome

Skuladottir AT et al. “A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.” Nature Communications 13(1):1598 (2022)
Allele G
OR 1.08
p 4.0e-19
N 1,239,680
Meta-analysisLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.07
p 1.0e-8
N 658,927
Large GWAS
multi-ancestry
Wiberg A et al. “A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.” Nature Communications 10(1):1030 (2019)
Allele G
OR 1.11
p 2.0e-12
N 401,656
Large GWAS
European

About EFEMP1

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

View all EFEMP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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